Syndromes | Ask the Geneticist (SM)

Q&A about genetically-determined conditions that are syndromic. A syndrome is a collection of signs and symptoms that occur together and characterize a particular disease. Examples include Angelman syndrome and Tourette syndrome.

Other information about genetic syndromes:

-Genetics Education Center, University of Kansas

http://www.kumc.edu/gec/support/

-National Human Genome Research Institute

http://www.genome.gov/10001204

Subtopics

Achondroplasia (1) Alagille syndrome (1) Allan-Herndon-Dudley syndrome (2) Alport syndrome (12) Alstrom syndrome (2) Anderson-Tawil syndrome (2) Androgen Insensitivity Syndrome (AIS) (5) Angelman Syndrome (25) Apert syndrome (4) Beckwith-Wiedemann syndrome (BWS) (5) Birt-Hogg-Dube syndrome (1) Bloom syndrome (3) Borjeson-Forssman-Lehmann syndrome (BFLS) (3) Branchiootorenal (BOR) syndrome (1) CHARGE syndrome (4) CHILD syndrome (1) CRASH syndrome (1) Cardio-Facio-Cutaneous syndrome (CFC) (2) Cerebrocostomandibular syndrome (CCMS) (1) Chanarin-Dorfman syndrome (1) Char syndrome (1) Chediak-Higashi syndrome (2) Cleft palate lateral synechiae syndrome (CPLS) (1) Coffin-Lowry syndrome (10) Cornelia de Lange syndrome (CDLS) (12) Costello syndrome (2) Crouzon syndrome (13) DiGeorge syndrome (2) Ellis-van Creveld syndrome (2) Emanuel syndrome (1) FG syndrome (2) Familial Dysautonomia (Riley Day syndrome) (1) Familial cold autoinflammatory syndrome (FCAS) (2) General Questions on this topic (2) Gilbert syndrome (2) Greig cephalopolysyndactyly syndrome (GCPS) (5) Holt-Oram (12) Hutchinson-Gilford Progeria syndrome (10) Jackson Weiss syndrome (2) Job syndrome (2) Kallman syndrome (6) Klippel-Feil Syndrome (4) Klippel-Trenaunay-Weber Syndrome (1) Laurence-Moon (1) Lesch-Nyhan Syndrome (LNS) & Variant (LNV) (8) Long QT Syndrome (2) Lowe syndrome (2) Marfan Syndrome (5) Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome (3) Melnick-Needles syndrome (2) Menkes Syndrome (7) Miscellaneous/Unclear Diagnosis (22) Mowat-Wilson syndrome (3) Muckle-Wells syndrome (MWS) (2) Multiple synostoses syndrome (1) Nail-patella syndrome (3) Noonan Syndrome (14) Oculofaciocardiodental (OFCD) syndrome (1) Opitz G/BBB syndrome (4) Overgrowth syndromes (2) Pallister-Hall syndrome (1) Pallister-Killian syndrome (1) Peters Plus syndrome (1) Pierre Robin (3) Polycystic ovarian syndrome (PCOS) (2) Polymicrogyria (PMG) (1) Prader-Willi Syndrome (9) Pseudoobstruction syndrome (1) Renal coloboma syndrome (1) Rett Syndrome (11) Rieger syndrome (1) Roberts syndrome (1) Robinow syndrome (1) Rubenstein-Taybi syndrome (9) Russell Silver syndrome (7) Saethre-Chotzen syndrome (1) Simpson-Golabi-Behmel syndrome (1) Smith Lemli Opitz (10) Smith Magenis syndrome (SMS) (9) Sotos syndrome (17) Stickler syndrome (22) Tourette syndrome (16) Townes Brock Syndrome (TBS) (2) Treacher Collins (12) Trichorhinophalangeal syndrome (3) Tuberous sclerosis (1) Usher syndrome (7) VATER (1) Van der Woude syndrome (1) Waardenburg syndrome (23) Werner syndrome (1) Wildervanck syndrome (1) William syndrome (16) Wilson Disease (1) Wiskott-Aldrich syndrome (2) XLAG syndrome (1) Zellweger syndrome (1) No Sub-topic (0) Showing 457 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	My boyfriend's 11 year old son has bi-lateral conductive hearing loss, astigmatism, scoliosis, flat feet, a highly arched palate, slight curving of the fingers, is smaller in stature than average, has learning disabilities, behavior problems, is lacking in social skills and is very immature. He was diagnosed w/ ADHD and ODD. Lately, his speech has becomed very slurred and it's difficult to understand him. His IQ is on the low-end of average and he is in special education. He was seen by a geneticist and bloodwork was taken to test for 22q11.2 as well as BOR. He tested negative for 22q11.2. The results have not come in yet for BOR, but they want my boyfriend and his ex-wife to have their blood tested to try to find out what is going on. What else could they possibly be looking for? Also, there is a chance that my boyfriend is not the biological father...will that be apparent in this test? If so, is that something they will tell him? View Answer


	My son has Smith Lemli Opitz Syndrome. He is 8 years old. My question in "Will his life be shortened due to this genetic disorder?" View Answer


	I'm a 28yr old mom. I was clinically diagnosed with marfans syndrome 14 years ago. I have the long fingers, tall and flexible 5'10 and 150lbs.. I have a dilated aorta 3.9cm. While i was pregnant i got some genetic testing done and i had 2 mutations on the FBN2 gene, one they said doesn't seem to do anything but the other one may cause problems. Well my 8 year old daughter hasn't had genetic testing done yet but her aorta is above normal and my 18 month old son has tested positive for the same mutation as me and his aorta is in the same range as mine. Which makes me really nervous. We don't have the contractures that are associated with Beals but I know that the FBN1 gene is the gene associated with marfans.. so my question is are there other disorders that affect the aorta and the FBN2 gene besides beals because no one in my family has the ear defect or the contracted joints. My mom was also clinically diagnosed with Marfans when I was. View Answer		2009-11-10


	hallo,i want to ask, what happend in cromosom 15 exactly so someone can suffer from marfan's syndrome? is there deletion in it? or something else..?? thank you, your answer will very help me to understand more about marfan's syndrome View Answer		2009-11-10


	Marfan Syndrome is a defect in FBN1, the gene encoding fibrillin-1, and 25-30% of cases are new mutations. How does this mutation occur? Thank you very much! (A pre-medical student with this condition) View Answer		2009-11-08


	what is life time of proder willy syndome now child age 10 years, what is treatment of pws View Answer		2009-11-06


	Hello! I have Stickler Syndrome. I have had multiple retina surgeries and have early onset glaucoma and arthritis. All in all it does not disrupt my day to day life too much but my concern is this: If my husband and I were to decide to start a family and my child were to inherit this disorder, is there a chance that the child could have a more severe form of this disorder? Or, because I seem to have a "mild" case, can I expect the child's health to be similar to mine? Thank you for your time and any information you can provide to us. Geri View Answer		2009-11-04


	What age are children with Rett Syndrome when symptoms start to occur? View Answer		2009-11-04


	Hi, I am a 27 year old female living with Holt Oram syndrome. I am about to start a family but I would like to get information about genetic testing before, as I do not wish to pass on the syndrome. Is there any research, know on this syndrome ? View Answer		2009-11-03


	my apoligize for my english. I am Anesthesiologist , and i have a son with Sind. treachure- collins, already plastic and maxilo. facial surgery . I want know, if is possible a pre-natal diagnosis for this sindrome,for his future sons. Thank?s for your attention View Answer		2009-11-02


	Hi My brother has Kallman syndrome; I don?t know if my parents have done tests to know if this genetic disorder is in our genes or has appear just on my brother. What are the chances that my children have Kallman disease? Thanks View Answer		2009-11-01


	Is Muckle-wells syndrome usually diagnosed in childhood? Can it be diagnosed in adulthood? Can the symtoms appear for the first time in adulthood? View Answer		2009-10-30


	My brother was diagosed with autism at 2 years of age, he is 18 now, and my mother just wanted him to get tested for coffin lowery syndrome not to long ago. What do we do now, now that we know that he has that? Are there any treatment plans? Any research we can do? Anything to help him get better? I need some answers for my brother. View Answer		2009-10-23


	A close friend's child was just diagnosed with mowat wilson syndrome. I have found some information on the condition, but not much on the life expectancy. Clearly this is not a question I can ask her mother. If you have any idea... I'd like to know. Thank you. View Answer		2009-10-19


	family history of stickler syndrome i havent been tested i have small lower jaw teeth dont met have troble eating always bitting lip by accident arthritis jaw dislocates when eating,tunnel vision,bruise easily but they leave a mark.my son is 12 a.d.h.d many learning diffeculties do i have stickler syndrome? View Answer		2009-10-19


	My niece, yesterday, was given a diagnosis of Trichorhinophalangeal syndrome type 3. She presents short in stature, with thin wispy hair but, fortunately, her fingers, teeth and face appears not to be affected with the exception of her nose which is slightly larger than average. There is nothing on the internet that explains this condition other than listing symptoms. Will this illness progress causing additional physical abnormality as my niece grows older? How rare is this illness. Is there any treatment or clinical trials? Is there any medical or research center where my niece could be seen or is there truly nothing that can be done? View Answer		2009-10-17


	What effects of being a carrier of Menke's have been identified over the last 10 years or so. I have a granddaughter in the hospital and need to know if some of her problems may be because she is a carrier. She got the flu and an infection. Has high blood sugar, high blood pressure, seizures and other problems. What can to tell me that may help the Dr. to understand what is happening to her View Answer		2009-10-17


	My son has Stickler syndrome. (col11A1) Type II. Also he is Pierre Robin Sequence baby. He is 2 months old. Because of the small jaw we need to have Mandibular (lower) jaw distraction. But our surgeon said Sticklers people's bone healing would be slower and may be not strong enough after surgery. He had Bear test for hearing. They found mild low tone loss. But it could be because of the cleft palate. Also we had eye exam. They did not find anything. My next question is IS IT how progressive? We was not told it was severe or mild Stickler. Please help us. View Answer		2009-10-07


	We are adopting a 12 month old child from South Korea whose biological father has Wilson's Disease. It is not known whether or not the mother had the recessive gene and/or disease. Our baby has been tested in her home country and her paper work says that she has tested positive for the gene. When she comes to America what tests will need to be done to confirm whether or not she has Wilson's Disease or is instead a carrier? Also where on the East coast do we need to take her for this testing? View Answer		2009-10-07


	Has the use of behavior modification ever proved to be successful to modify behavior which accompanies a genetic MR syndrome? For example, self injurious behavior with Lesch Nyhan syndrome? View Answer		2009-10-06


	I am 40 years old and was diagnosed, at birth, with Nail-Patella Syndrome. Several other family members have/had it as well. I was diagnosed with a Pulmonary Embollism in 2005 and was placed on blood thinners. I am told that I need to stay on blood thinners indefinitely because I am susceptible to blood clots because of the Nail-Patella Syndrome. I've never heard this before and would like to know if this is true or not before I have a discussion with my dr. about coming off this medication. Thank you. View Answer		2009-10-06


	Can the use of anti-seizer meds during pregnancy aid in the mutation in Holt-Orem syndrom View Answer		2009-10-04


	I believe my daughter has Familial Cold Autoinflammatory Syndrome. It started at age 6, she is now 18. About 3 weeks ago she had one of the worst episodes. Her eyes were swollen shut. She had severe redness, pain, and itching of her eyes and face. She had generalized pain, nausea, and weakness. She was admitted to the hospital with pylonephritis. Her symptoms seemed to get better. However, she now is rapidly losing her site. She had an eye exam 1 week ago and had 20/25 in left eye with 20/30 in right. She now has 20/80 in her right and 20/70 in the left. We are currently going to Dallas every fews days being seen by Southwestern Medical School. After a week they still don't know what is going on or what to do. Could this be part of the FCAS or Muckle-Wells syndrome or something else. View Answer		2009-10-03


	Hi, My son has been diagnosed with Russell Silver Syndrome by testing positive to UPD7. What are the chances he has a problem with chromosome 11 as well? It appears the methylation of chromosome 11 causes many of the symptoms and I want to know if I should worry he will develop them or not. I had a mosaic placenta and tested high for pap a protein during my pregnancy-placental disfunction..etc. thank you! View Answer		2009-10-02


	I had my daughter to see a Geneticist when she was about 6 years old and was told she had Angelman's sndrome and it was a clinical. My daughter is now 19 and I was wondering if I sould take her back to find out if there is anything new they could tell me. View Answer		2009-09-30


	I am 39 yrs old, have 2 healthy boys and am 17 weeks pregnant. According to the latest ultrasound it's a girl. Both my husband and I are healthy. My mother's sister had a daughter with severe mental retardation in the 1960's who died at the age of 12 (the disorder was not known). My half-brother (same mother) has a daughter with Rett syndrome. He also has a healthy daughter. I'd like to know if gene testing for Rett syndrome is recommended for me for my current pregnancy. Thank you. View Answer		2009-09-28


	My 52 year old brother died recently from a Stanford type A aortic dissection. He had previously suffered right internal carotid and left vertebral artery dissections. He was a heavy smoker from age 14 until death. he had a history of some cocaine use and at times heavy alcohol use. He was slight and pale with sparse body hair and some mildly visible veins on his chest. He had a normal face with average to fleshy lip size, normal nose and ears with lobes present. He had one hypermobile thumb that could be bent back to touch his wrist. He had a lot of scarring on his forearms (he picked at the skin), but none on elbows, or face. He had a lot of dental problems. He did not bruise easily except for what looked like senile purpura on forearms. Our parents appeared to be normal. Our mother had a cerebral aneurysm that ruptured at age 57 (smoker.) Maternal grandfather 9smoker) had AAA and successful repair--lived to age 85. Should siblings and children be tested for EDS IV? View Answer		2009-09-24


	My son has GCPS (Greigs Cephalopolysyndactyly Syndrome). I know that the GLI3 thing affects early development but can find nothing about whether it affects development later in life - e.g. during adolescence or puberty. Is there a possibility of him being affected then - he was a late walker and talker, and was born with extra fingers and toes, and an extra backbone (vertebra). View Answer		2009-09-24


	My son has been diagnosed with Russell Silver Syndrome.He is 9 months old,has all the symptoms.IS there treatment 2 reverse this condition and what can be done to increase his weight,symmetry of his leg? View Answer		2009-09-23


	I have a grandson who is almost 4 years old who is diagnosed with FG Syndrome. He has been walking approximately one year. He does not talk. He does communicate with sign language, but only a little bit. My question is that he is becoming aggressive, with pulling hair and scratching. He doesn't cry much, mild mannered, loves to be massaged, and smiles quite a bit of the time. Any ideas on handling the aggressive behavior? He doesn't seem to understand that he is hurting us. Thank you. View Answer		2009-09-22


	I have a son with Cornelia de Lange syndrome. Do my two normal children, his siblings have an increased risk of having children with this disorder. Neither myself or my husband have it. I come from a large family of eleven with no evidence of it . My husband has no siblings so no incidence there either. View Answer		2009-09-22


	I have a client with Lesch Nyhan syndrome and recently experienced a hip fracture. this fracture occurred when the nurse was lifting the 3 y/o up from a sitting position on her lap. NO faLL etc. It was a severe fracture meaning the growth plates are effected. Is this caused from the build up of sodium urate crystals in the joint??? or osteoporsis related to nonweigh bearing??? View Answer		2009-09-16


	My sister in law has Smith Lemil Opitz and is now 36 years of age. I'm trying to find out if she can suffer symptoms, or even go through the menopause. If there is anyone that you know with a female of this age or can help answer some questions regarding the issues that go with the condition, I would be most grateful to converse with them. View Answer		2009-09-15


	What considerations are to be employed when caring for a person with coffin-lowry syndrome? View Answer		2009-09-15


	My 18 yr. old has Bicuspid Aortic Valve, and it is severely leaking.He is going to have heart valve replacement surgery soon.He is also genetically missing 8 adult teeth, and had to have dental implants. When he was born, he had what Dr. thought was skin tags in front of both ears. The Dr. shaved the tags down, but when he was a teenager, I took him to a Dermatologist to have them shaved down closer to his skin, because they looked like mosquito bumps. When the Dermatologist shaved one side of the supposed "skin tag," it bled a lot and the Dermatologist said they weren't really skin tags, but Accessory oracles (2 extra ears that didn't fully develop). My Son is very intelligent, and is otherwise normal. A geneticist tested him for Marfan's syndrome, but said he didn't have it. None of my relatives have ever had any heart problems. Do you have any idea what my Son's genetic disorders could be? There has got to be some kind of connection, but no one seems to know what it could be. View Answer		2009-09-12


	My 20 year old daughter had her left ovary and fallopian tube removed due to polycystic ovary syndrome in November 2008. We just found out that her paternal Aunt has Factor V Leiden. Is there any relationship to the two disorders? My daughter had a breast reduction surgery when she was 16 taking her from an"H" to a "D". The surgery went well, but since then she has had recurrent chest pain and leg pain (similar to DVT/PE symptoms). We have an appointment with our general MD on Monday. Are there any specific questions we should ask? She was on Sprintec birth control "to try to regulate her hormones and have a better chance at conception in the future" per her gynecologist. Any suggestion or info would be greatly appreciated. View Answer		2009-09-11


	So I just got my blood/lab tests back and my immmunoglobulin E level is a 238 which is very high. I have bad teeth and other results show signs of bone density my carbon diodixe is very low. ect. Do you think I could show signs of and should ask my doctor about JOB SYNDROME? View Answer		2009-09-02


	My only child died mysteriously at 17wks gestation. My family has no known health problems. My husband's sister has a low IQ (although not too extreme) and had a daughter with seizures, agenesis of corpus callosum, and cortical blindess, then (by a different father), a normal boy, then (by same father) a boy with XLAG syndrome (micropenis, agenesis of CC, etc.). What are the chances my baby's death could be related to my husband's sister's mutated gene? My sister-in-law is positive for the Exon 4 ARC gene mutation in the heterozygotic condition. I am extremely worried about my future children. We are trying to get tested, but I need a starting ground. Thank you. View Answer		2009-08-28


	I'm a female with Kallmann's syndrome. I have no known family history of the disorder on either side. My only symptoms are anosmia and hypogonadotropic hypogonadism. My husband has no history of Kallmann's in his family. I've looked into infertility treatments and should be able to conceive. How likely is it that our children will have Kallmann's syndrome? How common are symptoms such as bimanual synkinesis, unilateral renal agenesis, cleft palate, abnormal eye movements, hearing loss, and abnormalities of tooth development? I'm very concerned about congenital heart defects and mental retardation as symptoms. Are these very common? Boys with Kallmann's can be born with "micropenis". Is this common? Can it be corrected? How so? What are the statistical percentages of these problems occurring in Kallmann's patients? I've read there are 4 types of Kallmann's and that the worst symptoms appear in types 1 and 2. Is this correct? how can I find out which type I have? Thank you. View Answer		2009-08-27


	My sister has two sons with what Doctor's believe to be Coffin-Lowry Syndrome. There is no prior history of this in our family, although our parents had only daughters. I am a female that would like to have children but have been scared to do so because of this potentially genetic disease in my family. If my sister is a carrier, am I likely a carrier as well? If I were to have a boy and I am a carrier would my child be born with Coffin-Lowry Syndrome, or are there odds that he would not be? What are those odds? Thanks. View Answer		2009-08-17


	What are the chances of a baby being born with Marfan's Syndrome when the only affected family member is the grandfather on the husband's side? This baby would come from the husband that I am referring to. View Answer		2009-08-10


	My daughter has recently started clearing her throat in bouts frequently throughout the day. I know that there can be multiple causes for this, but we believe her uncle (on my husband's side) has Tuorett's and OCD. Is there a significant chance that my daughter has inherited one or both of these conditions if her father does not have either? View Answer		2009-08-06


	If my daughters chromosone test came back normal. Could she still have retts syndrome? View Answer		2009-08-03


	Has there been any studies regarding Soto's syndrome with chronic lung disease? During my goggle search - I have not been able to find a link between the two, however, being it does affect the connective tissue to some degree, I am curious as to any involvement with the connective tissue in the lungs. View Answer		2009-07-31


	I am a 25 year old male that was diagnosed with Alport's Syndrome when I was around ten years old. After many years of dialysis, I had a kidney transplant and its been 9 years since the operation. Now that I've gotten older, I've been thinking about children and the genetics of my rare condition. I've done some research on my own and I've sought the knowledge of nephrologists and other doctors. My question relates to the passing Alport's to my children. From what I've gathered thus far, a X-linked Alports man can't pass the condition to his sons but he may pass the conditions to his daughters. I'm not sure if I have the X-linked, autosomal recessive, or autosomal dominant type. I'm concerned because I know what its like to go thru the condition and I don't if I want my children to go thru the same things. Thank you in advance and any information would be helpful. View Answer		2009-07-23


	I jus had a newborn son that passed away the biopsy showed he had chanarin-dorfman syndrome.H ow do i find out my 2 an 4 year old are the carrier? Is there a test for that? He also had a soft cleft pallet is that part of this syndrome? Im really just looking for some anwsers.If I have another child will this effect the child to? View Answer		2009-07-23


	Is IUGR and/or Postnatal Growth Retardation associated with Townes Brocks Syndrome? Also feeding difficulties been documented in persons with Townes Brocks Syndrome? In assuming that Postnatal Growth Retardation is associated; would this growth issue be a result of feeding difficulties or metabolic issues? View Answer		2009-07-23


	Hi, I have Klippel feil with asssociated neuro-enteric cyst which was excised 5 yrs ago via 5 level laminectomy . My fusions are C1-C4 and C5 to approx T3 I also experience what I would describe as dysautonomia Frequent fevers and tiredness. Is Klippel -feil linked to dysautonomia View Answer		2009-07-21


	When I was between 2 and 4 I was diagnosed with Melnick Needles syndrome; because if the physicians' anxiousness to use me for research and minimization of my life expectancy my mother stopped working with those physicians. For me it has basically been a non-factor in my life. I am now 46; have been working with a graduate degree for 20 years and function well. I do have pulmonary fibrosis and sleep apnea, however my energy level is good and I am able to live independently. I did experience a very challenging winter but I think it was due moreso to weight gain. Recently my menstrual cycle ended and my physcian thinks the syndrome may be a factor. I have no other symptoms of menopause at this time. I have never had one physician connect the syndrome to any of my other health challenges; in fact I am not even sure I really have the syndrome or if it was a misdiagnosis. How do I find out if I really have it? Thank you. View Answer		2009-07-18


	My daughter was just born and was found to have Pierre Robin Sequence. When (age) would a gentecist typically test for other syndromes (Sticklers, etc)? She does not have any of the distinct facial features that I have read are typical of Sticklers... Thanks View Answer		2009-07-13


	is there any method to detect the roberts syndrome in antenatal period? View Answer		2009-07-09


	My family is almost certain that my young adult sister has oculo-facio-cardio-dental syndrome. I am concerned that I might carry the gene for this syndrome and could potentially pass it on to my future children. Is it possible that I carry this gene and how could I be tested? Would it be possible to be tested locally? Thank you for your time. View Answer		2009-07-06


	What is the emotional potential of a child with Smith Magenis Syndrome? Can/do they emotionally connect with their parent(s)? What if they are adopted as an older child (7 yrs old), can they bond with their adoptive parent? Thank you. View Answer		2009-07-02


	I was born with treacher collins syndrome. My mother had it than I got it worse and almost didn't even survive. I was born 3 weeks early. I'm the 3 child of five and I'm the only one who got it really bad. I'm 17 years old now and I was wondering what are my chance's of having an infected child. Could there be a better chance that there could be some kind of treatment when I'm older and ready to have children. I have concaved chest, very very skinny for my age, hearing problems, I used to have breathing problems, I have sleep apena (sp?), and a small mouth. Another question I have is, "I only weigh between 85 lbs to 90lbs and I'm really skinny and I eat alot of food, what could cause that?" View Answer		2009-07-01


	Having undergone many tests to determine why I have multi-system disorder: Started with episodic fevers; all tests negative Joint Neuropathic Pain GI Sensorineural Hearing Loss Cold intolerance Sweating I'm wondering how one is tested for Muckle-Wells syndrome? Thank-you View Answer		2009-06-27


	I am concerned about possibly having Andersen Tawil Syndrome. I have webbed toes, occult spina bifida, fatigue, scolios(which I found as an adult), tachycardia also found as an adult), mitral valve prolapse, i have had temporary paralysis once that I can clearly say was paralysis, my left side feels numb sometimes in my face, leg, and arm. I am 36yrs old. Father also has webbed toes. Mother has lupus, diabetes, fibromyalga, mitral valve prolapse. I also need to know what type of doctor shall I seek out at this time. View Answer		2009-06-24


	Sir/Madam, Patient Details: Age: 2Year 2month (DOB 29/03/07) Present Weight: 6 KG Disease: Suspected Lowe Syndrome Symptoms: Catract in both eyes (operated at the age of 20 days), RTA (renal tubular acidosis), hypotonic. Treatment going on at: Sir Ganga Ram Hospital, New Delhi, India.(Dr. I C Verma, Dr. Ratna Puri) Questions: 1. Whether second opinion from some another Institute/Doctor (In India or outside) should be taken or shall we continue with the existing treatment? Any better hospital/ research centre is available in India? 2. Shall we go for official Diagnosis for LOWE Syndrome (DNA Testing), Where it can be diagnosed? 3. Is there any chance of getting cure from LOWE Syndrome? 4. We seek your guidance in this matter. Thanks & Regards, View Answer		2009-06-03


	Can you do a pgd test to detect Kallmann synrome? View Answer		2009-05-29


	My son is small for his age, he is 9 month and weights 14lbs and is 25 inch long, birth weight was 4lbs 11oz. He has some characteristics of CDLS. He has a small head, 14 1/2 inches, he has long eye lashes, had a Hieatial Hernia, Hypospodias, small hands, his eyebrows do connect. Some of these characteristics could be inherited also, because I have long eyelashes, my stepson had Hypospodias, my husband?s grandfather and aunt both had a Hiateial hernia. My son is being followed by a genetic doctor, they have ran a Microarray test, that came back negative, they ran the specific test for CDLS, that came back normal, so they did a second test, a more in depth one, that also came back normal. So now the geneticist is sending the information to Philidalphia Research Center to get looked at more closely. My question is: Is there any thing else that this could be? Since every test so far has come back normal, is there a possibility that my son really might not have anything at all? View Answer		2009-05-27


	Last agust I had a baby boy with charge syndrome. He survived only 2 days. I keep asking me why he was born with this condition. I already have 2 sane boys one of 6 and other of 4 years old. This was my third baby. My questions are: This baby was "twin" of another that was 3 week ealder and die at the 7.5 weeks while the other (my charge baby) was 10.5 weeks of gestation. Can this rare pragnancy be a condition for Charge? Olso I had chikenpox 30 days after I got pragnant, I was 33 years old, can this be a condition for Charge? Having a baby with charge means that my husband or me may have the syndrome??? If I got pragnant again are there many chances to have another Charge baby, can we try any test before pragnancy? Thank you for your answers. Liliana View Answer		2009-05-26


	My father-in-law has Tourette syndrome. I was wondering if my husband and I have children, what are the chances that our children will inherit this disorder? View Answer		2009-05-21


	i would like to know if there's any new research on saethre-chotzen syndrome, since i carry this condition and would like to have more children (i have 2) but have been warned that every child will have 50/50 chance of inheriting this condition, right now one child does, the other doesnt....please help, we long for a bigger family View Answer		2009-05-19


	Hey, I wanted to know if the Greig-cephalopolysyndactyly-Syndrome is seen as a disability. I have the syndrome myself and I am unable to wear normal shoes, only certain trainers or specially made shoes. Because of that I got into trouble with my employer and now I would like to know if the Greig Syndrome can be seen as a disability. View Answer		2009-05-14


	At age 5 my daughter was diagnosed with MayerRokitanskyKusterHauser Syndrome. This was discovered during a double hernia surgery. She will be 9 on Septemeber, 11 2009. We are unsure of how to proceed with the medical care of our daughter. I have read article after article about MRK. Included with MRK there could be renal disorders. Her pediatrician has no knowledge of MRK either. Physically on the outside she is developing as a normal little girl should..height,weight and academically she does very well. We have many questions of the unknown future of our daughters physical and mental well being. Any advise/information would be greatly appreciated. Thank you in advance for your assistance. View Answer		2009-05-12


	My husband and I have 2 healthy, developementally normal boys. However my husband's sister has a son who has just been diagnosed with Coffin-Lowry syndrome. The information she told us was that her geneticist told her that the condition had been passed through thier father's family, but she also said my husband and I were at risk of having an affected child. This doesn't make sense to me, wouldn't a X-linked dominate condition be impossible for my father-in-law to pass to my husband? Also my husband has no classic traits of Coffin-Lowry. Would the only sure way to tell if he is free of the gene be genetic testing for him? View Answer		2009-05-11


	Is Stickler Syndrome detectable prenatally? View Answer		2009-05-10


	why is stickler syndrome named its name (stickler syndrome)? View Answer		2009-05-07


	I had a daughter who passed away from complications of Noonan/CFC syndrome in January 2008. The KRAS gene was the mutation. My husband suffered from a bout with testicular cancer (seminoma) years earlier. Does today's research show a corrolation between the two? I have also a healthy 5 year old and a new healthy 4 month old now, but I am curious for future reference. Also, my daughter did receive the genetic testing before her passing stating the mutation and a possibility of CFC. Any information would be greatly appreciated as I am always interested in new research. View Answer		2009-05-05


	My 13 year old son has Williams Syndrome. About three years ago he started having absanthe-like seizures, where he would freeze. At first for abut 45 min. Over about a month, it dropped to seconds and then was gone until this year. Just started again. Neurologist put him in hospital and put wires all over head and recorded for 48 hours. Says it isn't showing up in the brain. Also says it isn't WS. But, I know another 30 yr. old girl with WS and she does the same thing. Is this a possible symptom of WS? Should I be doing more checking? Is this dangerous? Perhaps possible stroke? View Answer		2009-05-02


	I don't know if I can assist in any way regarding this disease however, I had four brothers and one nephew that passed away from Wiscott Aldrich Syndrome. My sister was a carrier, nephew that passed away and my other sister and I had healthy sons. My daughter was tested at a clinic in Canada prior to having children and had two healthy sons. If anyone needs to contact me regarding any info or if my sister and I can assist in anyway, please let me know. Thanks much View Answer		2009-04-30


	I'm trying to understand the biochemical basis behind Apert Syndrome. Is the condition a result of an error of metabolism or more so the result of a tissue disorder? I know the gene of interest for this disorder is FGFR2. Is there somewhere I could find the sequences of the mutant and/or wild-type alleles? View Answer		2009-04-30


	Our dd12 was initially diagnosed with Poland's Syndrome, then Linea Morphea instead. Since then our twin sons were found to have ASD's and one a VSD as well. Our dd7 had an echo today that revealed she has an ASD too. What are the chances that our dd12 may have an ASD and perhaps Oram Holts syndrome instead of Linea Morphea? View Answer		2009-04-27


	I have AIS (Androgen Insensitivity Syndrome) and I was wondering if there was a way for me to carry a child (someone else providing the egg & sperm obviously) like me being a surrogate. Or if there was a way to have someone else be a surrogate and influence the child to hav traits similiar to me with dna or something. View Answer		2009-04-26


	I have a 5 year old daughter, who has had a place of skin on her upper left back toward the side since she was 4 mo old. It is not raised, or discolored - just looks a little "pulled" so to speak. It really is not noticeable unless light hits it a certain way. It it will get "dry" if we don't use lotion daily. She has no developmental delays-always been ahead. I took her to a derm. who thinks it is a Shagreen Patch, (of TSC). I took her to our family dr. He looked her over w/a Wood's Lamp, and asked about family history. There's nothing like this in our family. She had a CT scan at 19 mo for a dermoid cyst on her head, and had a kidney u/s for mild reflux, chest x-ray as a newborn, her heart showed no problems in the 20 wk u/s when I was pregnant.None of these tests have shown any calcifications/cysts. She has no typical "ask-leaf" spots. Do you feel she would have enough evidence of TSC to consider genetic testing or MRI? I feel it is a conn. tissue nevus or congential malformation. View Answer		2009-04-24


	My child has Angelman Syndrome and with that has a severe sleeping disorder. She has not slept through the night in 3 weeks--this is common for her. Is there any medication that can safely help her and thereby help her parents sleep through the night? View Answer		2009-04-22


	I am 22 years old and just found out that I am 9 weeks pregnant. The father of my child has a severe case of Stickler syndrome. He was born with a cleft palate along with heart problems in which he had to undergo surgeries to correct. The older he gets the more sticklers is affecting his joints. He inherited the disorder from his father. I know that sticklers is a genetic disorder so what are the chances that my child could be born with sticklers and is there anything that can be done to prevent this disorder? Any information you can give me regarding my concern would be greatly appreciated. View Answer		2009-04-21


	I am a student from DSU in Madison,SD. We are studying mental diseases. Tourette's has always been intreguing to me. Do you have any short videos or specific links to web sites for Tourettes Syndrome that would be full of useful information? View Answer		2009-04-19


	my daughter is bed ridden with delange syndrome.she is 26. she has about 3-4 seizures a day. she does not communicate at all.my question is how much longer could she live? View Answer		2009-04-12


	My grandson has Sotos. He is 10 years old, funny and smart. He lives in Denmark where he gets speech therapy and is in a special needs class. He is fully bilingual and a computer whiz. He is extremely thin and very tall. He eats huge amounts of food and is always hungry yet bones are sticking out all over.His shoulder blades looks like wings. He does not have a pediatrician. Should he be tested for something? Should we worry? As I mentioned, he is happy and active. View Answer		2009-04-10


	I work with an individual who has Rubenstein-taybi Syndrome and he would mild form of this Syndrome .He is 38 years old,we have noticed a odor kind of smusty smell coming off of his body especially when he is stressed or under pressure.At first we thought it was a hygiene issue and now we have our doubts however I am wondering if it might be some kind of defence mechanism any information you can provide us with would be greatly appreciated View Answer		2009-04-03


	Dear Sir / Madam, Would you kindly advise me if a FISH test for Angelman's Syndrome shows both the maternal and paternal copies of chromosome 15? Or does the FISH test only show the deletions or microdeletions of the maternal copy of chromosome 15? I look forward to your reply. View Answer		2009-04-02


	Hi there, I'm hoping you can help me. I was born with Beckwith Wiedemann Syndrome, I am 21 years old and me and my partner really want to start a family, but I'm very worried i may pass this syndrome to my child. I was referred to a geneticist but the nearest is over 100 miles away so I am unable to attend, I have scoured the internet for hours, but it's all a bit confusing as one website gives different information to another. So all I want to know, is simply; 'What are the chances of my child/children inheriting Beckwith Wiedemann Syndrome'. I would be very very grateful if you could help me with this. View Answer		2009-04-01


	my three male baby died from wiskott aldrich. i want test before next planning so that same problem could not occur. two baby after 3 months and one after 9 months collapsed. View Answer		2009-03-27


	I am 58, and was diagnosed, by an eye doctor, as having Waardenburg's Syndrome when I was in my mid-20's. My eyes are distinctly different colors of brown; i always had a white forelock, until my hair turned totally gray in my 40's; i have wide set small eyes (so my adopted parents erroneously thought me cross-eyed as a child); and would have a unibrow, but for plucking! i am/was not congenitally deaf, and had no diagnosed hearing deficits as a child, but beginning in my 40's, began to lose hearing in the mid-range in both ears, more acutely in one, & it has gotten progressively worse year by year as measured by an audiologist. i finally got a hearing aid last year. the audiologist can find no reason for my hearing loss (it does not seem to be the typical loss that accompanies aging; i am losing the mid-register, not the high register). so, the question is whether my non-congenital, progressive hearing loss is also be a symptom/result of waardenburg's? View Answer		2009-03-26


	how does this statement make sense in regards to an affected person? if its not hereditary? What condition if the statement in paragraph one says its not hereditary? ........"people with Williams syndrome inherit the chromosomal deletion from a parent with the condition." Can Williams syndrome be inherited? Most cases of Williams syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition. View Answer		2009-03-24


	My child has not yet been diagnosed with the "Cornelia de lange Syndrom", it is curretly being investigated, but she shares 70-+-80 % of the symptoms associated with it. My question concerns the digestive problems that often occur in Cornelia de Lange syndrom: are they present at birth or can they develop later in life (my child is 9 and has been having digestive problems for over a year which consist in chronic constipation crisis with gastrix reflux). I would like to know whether this recent but regular problem (occurs every 6 weeks and lasts for 10 days) is likely to be part of her genetic yet unknown so far condition. What do the digestive problem of the Cornelia de Lange carrier consist in? Thank you in advance for your response. View Answer		2009-03-23


	Can you have a mild form of Crouzon Syndrome? Just a mild underdevelopment of the maxilla, a maloclusion. View Answer		2009-03-19


	I know there's Stickler's Syndrome in my family, of which I may have a slower form of than another family member & several ancestors died of according to one family researcher, but how can I find out for sure if I have it other than going to a geneticist, which my insurance will not cover the expense of seeing? I have vision problems, joint problems, and for the past two years digestive problems and for the past three months going on four months digestive problems that are leading to dehydration. I also have endocrinological problems and learning problems. Surprisingly as for the learning problems, I'm trying to obtain my master's degree, though not very successfully, I'm afraid to say. I've ear problems as well. But, short of incurring expenses that we can't afford, where do we go to find out if what's wrong with me is a genetic disorder that may kill me within the year or something that my doctors need to dig deeper and run more tests and send me to the right specialists to find? View Answer		2009-03-17


	My older sister (48)has CAIS.No family hx on either side 4 generations back to present-All women in family have dtrs/g-dtrs etc)I am 38 & never knew of my sibling's dx.(MDs told parents to "keep it a secret".In grad school,,I donated eggs to 2 families, resulting in one son in one family and a dtr and son in the other family. My mother tells me I was tested at age 6 and found not to have the condition,but apprarently no test for carrier status was done. I would like to know how expensive this testing is and where I can have it done (L.A. area) View Answer		2009-03-17


	Question: Should a person with "Complete" Androgen Intensitivity Syndrome check "female" when asked for gender on a survey? View Answer		2009-03-15


	Dear, I suspected that my little brother had all the criteria which fit the rusell-silver syndrome... so,can I just bring him to the hospital and do investigation such as genetic studies or others to confirm the syndrome or what can I do and what is his prognosis??What other test provided and can it be treated? can he had normal life same with other children? View Answer		2009-03-09


	I have been involved with a 15 year old boy for the past 5 years. His foster care placement failed -he lives with my husband and me. Today I picked up records from his orthopedic doctor and found information explaining his diagnoses when he was 20 months old. In a letter written to another doctor, it states that he has Alexanders WF syndrome-congenital macrocephaly- generalized hypotonia ligamentous laxity and physical delays.Current genetics Dr thinks he has FG Syndrome- blood tests($800-2400)-medicaid ?will not pay.I do not believe the genetic doctor has David's past medical records. Question: Do any children with this disorder live this long? Are there recent developments in diagnosing this disorder- blood tests, etc. that could assist in obtaining a positive diagnosis? Is it possible that David was misdiagnosed? Any help would be greatly appreciated.Thanks Nina View Answer		2009-03-07


	How many genetic syndromes are there? How many are believed to be undiagnosed at this time? Thank you View Answer		2009-03-05


	My 6 week old son has Emanuel syndrome and we were told it appears in every one of his cells. Does this mean he will possibly have a more severe case of the syndrome or does the presence of extra genetic material in every cell not make a difference to the syndrome. View Answer		2009-03-04


	I have Noonan's are wanting to know... I planning to have children, is there a strong link they would get this or worse? View Answer		2009-03-03


	Our child has undergone genetic testing for PWS (prader-willi) for several weeks now. The genetics person we have been dealing with has attempted 7 times prior to test for the condition using FISH and methylation techniques. The results from those she was convinced it was mosaicism. After that, they ran 4 more tests side by side, changed some of the testing methodology and now she thinks she has the answer she was looking for which is PWS. I am still awaiting the final results from her tests but we are not confident her testing has been accurate. Please direct me to a testing facility that specializes in PWS. The initial reason they were testing for PWS is hypotonia but our child has never had general hypotonia, only an issue with feeding. We do not want an incorrect diagnosis. View Answer		2009-03-03


	We are foster parents of a soon to be 3 year old who has been diagnosed with coffin lowry syndrome. We have tried researching this topic but really want to know if this syndrome is on a spectrum. From what we have researched he does not seem to have all the characteristics and seems quite intelligent. Although his speech is just starting to come along his receptive language is really good. His two brothers, one younger and one older also have CLS diagnoses. Thank you View Answer		2009-03-03


	Is it possible for a child to be CLINICALLY diagnosed with "Williams Syndrome" after getting a negative result on the genetic testing for "Williams Syndrome"? For instance, If the geneticist says the child definately does not meet the genetic criteria for "Williams Syndrome". Can the child then be clinically diagnosed based on physical features and conditions? View Answer		2009-02-24


	Does Rubinstein-Taybi Syndome effect life expectancy of the child? View Answer		2009-02-18


	My wife and I have a daughter that was born on October 9, 2006, with Holt Oram Syndrome. At 14 months age, my daughter did a surgery to repair a atrial septal defect and 3 months ago, she did a surgery to policize the index finger (policization). After these surgery, are everything OK with her. This is the first case in my family. My wife and I does not have associated problem. Only the father of my wife, the grandfather of my wife and the grandfather of the father of my wife were born with 2 thumbs in one hand. They did not have Holt Oram Syndrome. I am 35 and my wife 36 years old. Now, my wife and I intend to have a new baby. Can you inform me the probability to have a new baby with Holt Oram Syndrome? View Answer		2009-02-18


	I'm a 19 yr old female. I was diagnosed with Russell Silver Syndrome at the age of 5. My endo never mentioned this diagnosis to me or my family. I only found out about this diagnosis after requesting my medical records. Are there any hormonal, issues, or any other health issues that are associated with this syndrome. Any information would be appreciated. View Answer		2009-02-15


	There are six individuals in my extended family (including myself) who appear to have Stickler's Syndrome. [Genetic counseling has verified this although definitive testing has not been pursued]. Two of these six with Stickler's have also been diagnosed with Pierre-Robin Sequence. These two include my nephew and my newborn son. I have read in numerous places online that those with Pierre-Robin also have Stickler's about 30% of the time. The statistic that I cannot seem to find is what percentage of those with Stickler's have Pierre-Robin? This is important for my wife and I in considering the likelihood that our future children will have Pierre-Robin. We know there is a 50/50 chance of them having Sticker's since I have it, but if they get Stickler's, what is the chance they will also have Pierre-Robin (as our 1st child has)? View Answer		2009-02-14


	is char syndrome a sex linked disorder? View Answer		2009-02-12


	is prenatal diagnosis of cornelia de lange syndrome possible?if yes then how earliest and what all test are available?there is a 27 years old pregnant patient with 6weeks amenorrhoea having a 3years old affected male child with similar disease and a 7years old normal female child.what is recurrence rate in present pregnancy as couple is having both normal and affected sibling? View Answer		2009-02-11


	My mother has a white forelock apparently due to Waardenburg Syndrome according to dermatologist, she has not had genetic testing. She doesnt have wide set eyes or deafness or bowel trouble. She does have blue eyes. She had a paternal uncle who also had a white forelock. I do not have any signs of having this. None of my 4 children have white forelocks. One has a brown patch in otherwise hazel eyes with slightly wide epicanthal folds. My mother thinks that the gene may have been passed to us even though there is no obvious expression. Is this at all likely? View Answer		2009-02-07


	My son was born in 1985. His lower right arm (elbow to hand ) did not develope. Macroglossia, open emphalocile, large organs. Hernia repair of both right and left testicles. At 1 year of age he was diagnosed with BWS. Very lucky....no trache needed. I am wondering about the likelyhood of him passing this syndrome on to his own children. View Answer		2009-01-30


	My mother was diagnosed with Alport Syndrome in her early 30's, after being diagnosed for SNHL and having had her left kidney fail at 19. Family stories of her father, suggest he may have had kidney 'problems' and had been positively diagnosed for progressive hearing loss, which kept him out of WWII. My grandmother, had no such problems, nor did any of her relatives, nor have my aunt, who came from my grandmother's second marriage, or her children had any problems with their kidneys or hearing. My father and his family, are also symptom free. My mother has since died, and while I've had SNHL since I was 2, I have had no problems with my kidneys nor have my yearly urine tests at my regular check ups, turned up anything abnormal. Who would I go to to be formally tested (which medical specialty do I need to see for testing)? And most importantly, which prenatal genetic tests can be done, should I one day become pregnant, to determine Alport's Syndrome in an embryo or fetus? View Answer		2009-01-29


	Hi, I have been surfing the web to find out about Anglemans Syndrome, we live in the uk but find most helpful sites are from the USA. My sister in law (Husbands Sister) has just had her daughter diagnosed with angelmans syndrome, I am not sure of which type she has as i know most forms are not hereditary but 1 type is. I dont really feel i can ask her more about it at the moment but my husband and I are trying for our 2nd child and wondered if we carry a risk from my husbands side? Any help and advice will be appreciated. View Answer		2009-01-26


	In Early 2008 I was diagnosed with Warrdenburg Syndrome type 2. I have had problems with my hearing and my ear drums since I was just a child. In 1998 my son (He is the middle child, I have 2 girls now) died an hour after birth due to a heart condition called Duadenal Atresha. ( the spelling is not right, I'm sure) We had an amnio and the results were normal, could they have over looked the possibility of WA? View Answer		2009-01-22


	My husband and I are considering getting pregnant. He has a sister with CHARGE syndrome, and is concerned about the possibility of having a child with CHARGE or another defect. What are the chances of this occuring? I am 31 and he is 29. How long could we safely wait to get pregnant, as defects increase with maternal age? View Answer		2009-01-22


	When I was diagnosed with WA my ear drum was so badly damaged (scare tissue, bones and nerves was all that was left) by all the surgeries I have had that the only option was to have my eardrum rebuilt, for about 6 months everything was great, my hearing did not improve much but the pain was gone. In November 2008 I cought a cold, while sneezing my eardrum was penitrated. Now it seems like the pain is back to stay. Is this part of the disease? What can be done now? I can not live with this pain. View Answer		2009-01-22


	I have a 28 year old son who was born with Opitz Frias Syndrome. I have another 27 year old son who does not have Opitz Frias Syndrome. Recently, my younger son, who is not effected, told us his fiance is pregnant. I know the genetics field has come a long way so I hope you can shead some light on what I was told years ago. While pregnant with my second son, I was told that if I had a male child he would have a 50/50 chance of having Opitz. If I had a girl who had the syndrome - I would miscarry or if she lived she would be a carrier. How do these findings hold up today? Does this have any affect my younger son and his genetics and the baby on the way? If the baby is a girl would she be a carrier? I want them to have genetic counseling, but I don't want to scare them to death either. Your input would be much appreciated. View Answer		2009-01-21


	I have diagnosed Klippel- Feil Syndrome. My geneticist,20 yrs. ago,told me that my children could have residual effects of kfs. My 2 year old, refused to eat solids until recently, even sweets(no reflux). She has a huge speech delay and weighs only 20lbs. Blood tests show elevated liver enzymes 2 different ones but not bilirubin so liver disorders were ruled out.Once, a few months ago, she was unable to stand or walk for an entire weekend. She would try to walk and her legs would wobble and she would collapse and cry. Her legs actually seemed to be like rubber-like on a cartoon character. By Monday, she was fine. She seems normal otherwise. Her pediatrician wants her muscle enzymes tested for something like Muscular Dystrophy. I'm going to take her, but first i was hoping you could give me a thread of hope that maybe it's related to my KFS and not some incurable muscle disorder!Does kfs have any residual effects that could cause such strange behaviors. View Answer		2009-01-21


	To Whom this may concern. My nephew has recently diagnosed with TSC2, they diagnosed this prenatally. They found a tumor on his heart. I was wondering if they have found a tumor on his heart how likely are these tumors going to spread to other areas? For instance his brain, kidneys, and retinas? I thank you for your time in answering my question. View Answer		2009-01-12


	My elder daughter has been diagnosed with Rett Syndrome on last Dec/2008. She is now 22months. I found some information via the internet which talked about the stem cell transplantation can help to cure the rett's girls. Is it a possible treatment we can try? If possible, can we use the umbilical cord blood from my first son and transplant to my daughter? View Answer		2009-01-11


	I have four children (28, 25, 22, 21) all girls. I find this very curious that all four of my children have PCOS. All are over weight and two have been diagnosed with hypothyroid disease. When the last one was 7 she was diagnosed with precocious puberty at 12 diagnosed with hypothyroidism and 18 pcos. Her last TSH result is .13 and T4 is 1.15...normal? All the ups and downs of a "normal" life of a teenager...i find that my girls are still experiencing effects of these diseases...weight, depression, acne, etc. What is the connection? Is there a doctor that will recognize the ALL symptoms collectively and truly dig into what is really going on. It seam Doctors treat only symptoms they see...help me understand. View Answer		2009-01-08


	I am a school social worker preparing to assist in an educational evaluation of a student at a local parochial school. This student was diagnosed with Nail-Patella Syndrome at birth, and was diagnosed with, and is being treated for ADHD, since last year. I have been unable to find any link, however, between Nail-Patella Syndrome and a prevalence of learning difficulty or disability,other than ADHD, and am wondering if there has been any known link established. View Answer		2009-01-07


	I'm doing a research presentation on Tourette's Syndrome, and while I've discovered the tics seem to be linked to high levels of dopamine and sometimes a gene inversion SLITRK1 affecting the growth of dendrites... I was wondering if you had any idea what exactly went wrong within the basic signal transduction. Because it's dopamine I suspect it has something to do with the G Protein linked receptors... but I can't seem to find any info on this at all. I just know that the gene making the mRNA hasn't been switched off... if you have any idea where the problem in switching off the gene occurs I'd really appreciate your input! Thanks for taking the time to help out! View Answer		2009-01-05


	Our 5 yr old daughter fits the profile of Angelmans Syndrome, with the exception of not having seizures. She had genetic testing for it this past summer, but came back negative. I've heard of other kids who have also tested negative but were given the diagnosis of Angelmans anyway. How is this possible? I realize it's just a label, but it would be so much easier to explain when people ask about our daughter's condition. Right now we have to say, "Well, we really don't know..." View Answer		2009-01-05


	Hy I'm a physician in Mexico City and have a grandaughter with Cornelia de Lange, seeing by Dr. Ken Jones in San Diego CA. at childrens Hospital. It's the 1'st pregnancy of my dauhter and she doesnt want to make any tests. I want to Know what are the probabilities to have another child with the same syndrome in the next pregnancy. And if with the amniocenthesis test we can diagnost the syndrome. Thank You for your information View Answer		2009-01-02


	My husband's brother and nephew have both been diagnosed with Sticklers. My husband does not exhibit any traits and neither do our 2 children (1 boy, 1 girl). I wanted to know if my children would be at risk for carrying the gene for Sticklers. I have been told that it comes from my mother-in-law's family. View Answer		2008-12-25


	My question is how do people with tourette syndrome deal with it and live an everyday normal life? View Answer		2008-12-13


	I have a 3 yr old daughter with child syndrome. She has been tested for problems with certain organs and doesnt have any. She had the rash when she was born and it finally went away at about 2yrs old. Her left side is smaller than her right. What will have to be done in order for her to live a normal as possible life? Will she have to constantly see doctors or will this be something she will have to have monitored the rest of her life? Also will this stop her from having children of her own? View Answer		2008-12-09


	I have a maternal aunt and her daughter, both with Marphans Syndrome. The aunt died from marphans in 1997, her daughter is 51, in a nursing home due to the marphans, cerebelum atrophy and loss of hearing due to a loud roaring noise in her hear. No one else in my family has the general carcteristis of Marphans. Both aunt and cousin have numerous traits. Is the marphans totally them only? And is the cerebelum atrophy a family inherited condition that I could have now or in the future. View Answer		2008-11-29


	I have van der Woude syndrome. And am 8 weeks pregnant with twins. What is % that they will have van der Woude syndrome? And at was stage in the pregnancy can you tell if they have it via ultrasound? Thank You! :) View Answer		2008-11-25


	our son was just diagnosed with angelman's syndrome. will he be able to have normal children unaffected by angelman's syndrome? will he be able to have children at all (assuming he can develope beyond basic tasks)? are there doctors that specialize in this particular syndrome? where can they be found? View Answer		2008-11-23


	My genetic doctors think I have some kind of variant of Waardenburg Syndrome Type 3. They said I have Mondini deformity. I've got severe mixed hearing loss. Do you think it's likely to be progressive? View Answer		2008-11-22


	I would like to know whether hearing loss in people with Waardenburg Syndrome Type II is likely to be progressive. Thank you. View Answer		2008-11-20


	Dear Sir / Madam Is Sotos Syndrome a genetically carried syndrome. I am a 34 year old woman considering starting a family and would like to know the risks of passing Sotos Syndrome on to my children. I have a sister, 29 years of age with Sotos Syndrome. Is this genetically carried or a mutation of genes? I look forward to hearing from you Kind regards View Answer		2008-11-18


	My brother's wife has a nephew with ALstrom's Syndrome. I know this is a recessive trait and carriers are asymtomatic, but being the defect is found on the same chromosome as autism related disorders..? My brother's son ( he also has two daughters, very bright and ahead of the curve in terms of behavior, social skills, and academics) is in 2nd grade and this is the fourth teacher to conference with them in relation to classroom issues; poor gross motor skills, lack of eye contact, minor flapping behavior, inability to focus in a classroom situation. Academically he is almost on target. Everyone agrees something's different, but no anwers. His ped.!st picked up on this @ 5yr well check up,but the psy. gave no def. answers. As an infant: bony protrusion on his head, large head for age. toddler: behaviors seemed autistic-like, but mild, doesn't carry on many conversations, but can 'lecture' on subjects of interests. Brother confused, five tch, drs, concur but no diag.,which testing? View Answer		2008-11-17


	My son is three years old and has smith and magenis disorder. I was just wondering if you knew the very best, and latest treatment methods, and if there is talk of a cure for it. If you also have any advice that would be very much appreciated, thank you. View Answer		2008-11-17


	My son has many of the characteristics of Russell-Silver syndrome. He is only 38 inches tall at age 5.5 years. I know that limb asymmetry is one of the common features of RSS. How do I accurately measure limb asymmetry? View Answer		2008-11-13


	Thank you so much for taking the time to read my question. My daughter in law has a family history of Stinkler Syndrome. She does not appear to have any triats. Her brother however has lots of the traits including joint, eye problems and cleft palate at birth. My son and daughter would like to have children. He has no hx of the syndrome. Will my grandchildren have a chance of having the syndrome. thanks again. View Answer		2008-11-12


	My granddaughter has been diagnosed with Facio Audio Symphalangism Syndrome. Her mother also has it but they are not very forthcoming with information. I am trying to find more information on this syndrome and possible treatments to make sure my granddaughter is getting the help she needs. Thank you for your help. View Answer		2008-11-11


	I am a parent of a child with Angelman syndrome. How likely is it that other future children would have this syndrome? View Answer		2008-11-10


	My daughter has recently tested positive for Charge Syndrome, (heterozgous IVS13+5 G>T mutation identified in CHD7 Gene). She was born on 6/23/03 and wasn't associated with any known syndrome until now. Now that she has a label, is there anything I should be pursuing? None of her doctors are willing to explain this nor do I know if it would alter our current treatments. View Answer		2008-11-10


	My question is my 3 year old son was diagnosed with Job's syndrome. I do know it affects the Stat3 gene. is this the only test to test for Job's syndrome? Is there a mutation or a deletion of this gene? my son also has the severe eczema, lung problems the Hyper IGE and hyper eosinophil counts. reoccurant mrsa infections but i hear this is common with job's syndrome.. is this an issue with his immune system like overactive and underactive? View Answer		2008-11-10


	mi hijo tiene menkes. queria saber si ustedes me pueden ayudar, si hay alguien que hable espa?ol.gracias. View Answer		2008-11-10


	I would like to know, people with Beckwith-Wiedemann Syndrome particularly males, how tall can they get when they finish growing? and when does their growth spurt usually start? Is it in elementray school and they are abnormally taller than everybody else? At what age do they reach 5ft? View Answer		2008-11-09


	Hi, I am 42 years old - I was born missing a left thumb, bone that attaches to tumb, bicept muscle, wrist bones are not developed exactly right in the left wrist. My left arm is about 2 or three inches shorter than the right arm. My thumb on my right hand is there but the middle joint does not work and the thumb is small. I was born with only one kidney. I started having PVC's when I was 20 years old. I still have PVC's but no pain. I had it checked when I was 20 but the doctor didn't find anything except irregular heart beat. My wrist hurts all the time. I had a doctor to look at it once and he just told me that it was not developed right and I may need surgery later in life. Do you think I could have this Holt Oram Syndrome and what kind of heart problems does it cause ? I've never been givin any explanation on what may have caused all of this. View Answer		2008-11-07


	My niece has Noonan Syndrome. She is now 15. She is a chronic cryer. Is this behavioral characteristic common with Noonan Syndrome kids? My sister has tried everything to stop her from crying, but she persists. Any info would be appreciated. View Answer		2008-11-02


	I am currently seeing someone who's Sister has a severe case of Crouzon Syndrome. However my partner does not have any signs of the syndrome and neither do the parents, however there are other family members (cousins) who do have this syndrome. As this is a sensitive topic, and for my own reassurance, I wanted to know what would the chances of my partner and I having children with Crouzon Syndrome be? If my partnes does not have the syndrome and I do not, does this mean that we wont have a child with this syndrome (unless there is a mutation). View Answer		2008-10-27


	Hi - I am interested in finding out if a child can have Down Syndrome and William Syndrome? We had a cytogenetics lab study done at birth, but NO FISH. View Answer		2008-10-24


	Hello, I have a question regarding FCAS or Familial Cold Autoinflammatory Syndrome. My Brother-in-law has this disease as do his father, grandfather, aunt, and two first cousins. After doing some research I've found that his two children (my nieces) each have a 50% chance of having this disease (which they do not). My question is this--could his children still be carriers of this disease but not actually have the disease manifest? Thank you for your time and expertise. View Answer		2008-10-21


	I am currently a student of genetics. I want to write a paper on this certain mutation but I am unable to figure out what it is called. I once met a young man in the early 1980's, with out any handicaps, he had pupils that looked like reptiles (long black slitts). Do you know the cause of this mutation and what it is called? PS. This was long before the unusual contacts. Thanks this would help alot. View Answer		2008-10-21


	I have 2 sons with Noonan's Syndrome, My 5 year old was diagnosed in 2006 and has many of the physical characteristics, i.e. webbed neck, lowset ears, heart murmur,droopy eyes etc.. and a hole in his heart, sorry i dont know the medical term off hand, however my youngest son is 3 1/2 and he only shows the short stature and bow lip characteristics, when i say short i mean reallllllly short, he is still wearing 12 mos. clothing and the thing that sticks out the most is his speech, he can not speak very well. Anyways my question is im pregnant again im unsure if its a boy or girl, what are te chances of me having another child with this syndrome, the father of this child is a different man and he father of my sons was believed to be the carrier of the gene that causes Noonan's but nothing was ever confirmed. You should also know that i have 2 other children with out the syndrome, a girl 6 and a girl 4 months old. thanks View Answer		2008-10-20


	My child may have Angelman Syndrome. I was reading about the different ways the condition is caused and understand that in some cases, there is up to a 50% chance I could have another child with the syndrome. I was wondering if there are in-vitro fertilization services available anywhere in the US where they could screen embryos for mutations that would cause AS. View Answer		2008-10-16


	I have a brother diagnosed with Angelman Syndrome (deletion +) and am getting ready to start my own family. I'm wondering if there is an increased risk that my children could have AS, or if there is any genetic testing I could have done to determine the risk? View Answer		2008-10-13


	My 3 yr. old daughter has had many unexplained medical issues. Every doctor I have taken her to (including Mayo clinic in Rochester) say that she is a "difficult case". They have suggested genetic testing and did some basic genetic testing on her recently. One doctor called and said that she showed abnormalities on her CDKL5 gene, and the other doctor said that she showed extra tissue on her X chromosone so she has 3 instead of two. My husband and I are getting tested for the abnormality. My question is, what does this abnormality mean if my husband and I don't have it? What "syndrome" or whatever is caused by it? I guess I am asking how can I research about this? View Answer		2008-10-08


	My daughter was born (5/12/2008) with Grieg's Syndrome and is having seizures. Her neurologist isn't sure if they are related to her syndrome or not... She is also 3 months delayed developmentally. Also, her hydrocephalus has increased since birth and will possibly be managed by a shunt. My question is: Could the hydrocephalus be causing the seizures and developmental delays? View Answer		2008-10-08


	I would like to know more about Angelman Syndrome and Sulfitoxidase Insufficiency. Any and all information and/or websites would be a great help. Thank you for your time. View Answer		2008-09-26


	My half-sister visited a geneticist some time ago and he suggested she may have Stickler syndrome based on her physical appearance and her medical history (cleft palate, vision loss, hearing loss, cataracts, etc). My half-sister always bore a very striking resemblance to my mother who also has suffered from all of the above mentioned medical afflictions (except for cleft palate). I, however, have suffered none of these problems and do not exhibit any of their physical characteristics. My half-sister recently had complications with a pregnancy at around 33 weeks and lost the child. Upon seeing the child, who shared the same physical traits, it seemed the Stickler's argument was strengthened. I just wanted to confirm that since it is autosomal dominant and I exhibit no symptoms that I didn't inherit and will not pass on the syndrome to my future children. View Answer		2008-09-22


	My daughter Emily age 4 was clinically diagnosed with Beckwith Wiedemann Syndrome at 11 months. How can I find a geneticist in our area that specializes in overgrowth syndromes. Our geneticist that diagnosed her moved out of state and I am tired of being referrred to a nutritionist when this is clearly an overgrowth syndrome. Thank you!! View Answer		2008-09-15


	What are the chances of inheriting Werner Syndrome View Answer		2008-09-15


	my boy friend has nail patella syndrome mostly physical but we are intrested in having children at some piont in time. how likley is it our children will have this. View Answer		2008-09-10


	Is it possible for there to be a diagnosis of Lowe Syndrome without cataract present at birth? View Answer		2008-09-06


	My son has Mowat Wilson Syndrome, I have just found out that I am pregnant. What are the chances of my second child having the same condition, are the tests 100%, how many other reported families are there with more than one child being affected by this syndrome ? Hope you can help !!!!! View Answer		2008-09-05


	I was born with two pits in my lower lip. I am also missing my upper lateral incisors. I do not have a cleft lip or palate. My mother was born with the lip pits and is missing one lateral incisor. My maternal grandmother also has the lip pits and no missing teeth. My aunt and two sisters do not have any of these symptoms. Is there a way to determine if I have VWS or PPS? My nephew was born with webbing between two of his toes. I do not know if this is related. View Answer		2008-09-02


	what are the risk factors of having Renal coloboma syndrome? View Answer		2008-08-29


	My son was diagnosed with CHS shortly after birth. We were directed to a hematologist quickly. After weekly CBC test at four months the doctor said that a bone marrow transplant was the way to go. At seven months it happened. But I have looked online everywhere for post-transplant behavior or life span. He has not shown any other symptoms its was mostly in his blood. He has the blonde/silver hair and blue eyes, but it right on track for his age. I was just wondering what kind of life span after his transplant in the case of no relapse should we expect? View Answer		2008-08-22


	I have alport syndrome. I am wondering if this condition can affect the results of a home urine pregnancy test. View Answer		2008-08-19


	I have a 4 month old son who was dx with failure to thirve. We thought it was a milk allergy, so we switched formulas. He is doing much better and is eating more. During his well check, the MD thought the wrinkles under his eyes, his length (92% for height) and his nose, were odd. She stated his nose did not look like either mine or my husbands, which is why she is referring us to a geneticist. She could not tell me what she was thinking, as far as what genetic disorder she suspects. We have a long hx of allergeries in our family, to milk, eggs, etc. I was very thin as an infant and was also dx with failure to thirve and I have no health problems as an adult. Can you tell me what you think the MD's thought process is and why she would refer right away to a geneticist vs a nutritionist? thank you. View Answer		2008-08-16


	We adopted a son in 1977 at age 10, who had been diagnosed with Palister's Syndrome. His genetic birth defects include extra fingers on his left hand; a shortened right arm, bent at the elbow, with one bone in lower right arm, and three small fingers on right hand. Emotionally, he has many problems. His biological mother also has been diagnosed with Palister's syndrome. We do not know the extent of her genetic birth defects, if any. Could his emotional problems and alcohol and drug addiction be related directly or indirectly to Palister's Syndrome? If so, is there some treatment that might really help? Also, our son has a 12 year old daughter, a young woman whose breasts are developing very asymetrically. I recall reading many decades ago that in women, mammary glands are also affected by Palister's syndrome. Is this true, and if so, what can we do to assure that our granddaughter receives the medical care that she might need? Both our son and granddaughter are bright, creative people. View Answer		2008-08-14


	hi there.. i have what they call russel silver syndrom.. i have some characteristics of them but not all like the little finger bent the down curve of the mouth and a triangle shape head and being 5 foot thats prob all to be honest.. i was wondering.. if i have kids.. would the gentic mutation be passed on.. is it safe or wise to.. or is there really not much know about the rss being passed on.. no one else in the family has is and all are normal.. and thats for all relatives and as far as grandparents know they never known anyone else to have it. View Answer		2008-08-05


	My son has numerous markers of Robinow Syndrome yet he lacks any defect in his genitalia. The Geneticist we saw concluded he did not have Robinow after a physical examination. Are genital defects a "make or break" factor in determining this condition? View Answer		2008-07-28


	My son, who has tourettes and aspergers has found a girlfriend with russel-silver and she is now 5 wks pregnant. How bad will this be? Surely this child is likely to be in a terrible state. What can I do, I am so worried? View Answer		2008-07-28


	What are the chances of a woman with Sotos syndrome transmitting it to offspring? Is it any different for males with the syndrome? Are there tests or screening procedures available to measure the risk? If it is transmittable is there any correlation between the severity of the syndrome of mother to child? View Answer		2008-07-27


	My daughter is 14. At two she was diagnosed with Prader-Willi at Texas Scottish Rite here in Dallas.. However, her chromosone & FISH were negative. Her Dr. referred to them as inconclusive. She has a low normal IQ, loose joints, abnormal inner ear structure, large space between her first and second toes as well as some skelatal differences in her foot structure, splayed finger tips and obesity associated with her inability to control her appetite as well as her low muscle tone. She is 5'7 and currently weighs aproximately 170. It is possible that she also has Hirschprung disease. Most of the doctors that we see currently say that she has an unknown syndrome, but not Prader-Willi. I have been unable to find a physician that is willing to persue this for me. Can you assist me in finding a geneticist that would persue this for me so that I can insure that she is receiving the best care possible? View Answer		2008-07-23


	i have a patient with klipple trenauny syndrome i am asking about center that can study the mutation PTEN gene on research basis thanks in advance View Answer		2008-07-05


	I have Klippel-Feil syndrome. My neck is short, my right shoulder is elevated, I had spinal surgery when I was 2 years old in the USA. My question is if I have children, what are the chances of my children inheriting Klippel-Feil syndrome? Also, to note, my fiancee has no conditions View Answer		2008-07-03


	My husband's sister has Waardenburg syndrome 2. It was easily caught by doctors as a child seeing as how she has one blue eye, and one half blue/ half brown eye (sectorial heterochomia), and complete loss of hearing in one ear. She also passed this trait onto one of her sons. Neither of her parents appear to have this disorder, which lead me to believe that while a dominant trait, it can occur due to spontaneous mutation. However, after further investigation, my husband was/is afflicted with some of the less sever symptoms growing up: born with a cleft palate and premature graying (more like white which is very noticeable in his red hair). I was wondering if it were possible that he (and I guess) one of his parents has a mild form of WS, and we should be concerned about passing it on to our children? Thanks! View Answer		2008-07-03


	I have a sister with Rett's Syndrome who was born a year before me. I share many characteristics with her, I'm short, I have dark hair, acne, etc where my other 2 siblings do not. I also share traits (albeit more mild) that she has due to her Rett's syndome. I'm very young looking, I'm 25 and people think I'm around 16, I have very sparse facial hair and I've been told I exhibit many symptoms of high functioning autism, I have trouble with verbal communication but I am able to express myself efficiently in writing. I have looked up Klinefelter's syndrome, and I'm wondering whether that's likely at all, and whether it could have been missed on visits to the hospital since my birth. View Answer		2008-06-27


	I have a friend whose 22 month old son has just been diagnosed today with Rett Syndrome. I am trying to find out some general prognosis information in boys as everything that I find is girls. The nerologisits has stated in so many words he will more than likely die from this. Is there any information that you can please send me View Answer		2008-06-25


	My 5yr old grandson (I am the legal guardian) has been diagnosed with some degree of deafness (no apparant cause), he was born with one kidney & hypospadias. I am not sure if this is relevant, but his mother (my daughter) had some problems with her mitrochondrial DNA, causign her to be very ill for almost two years, prior to her pregnancy. My husband has been totally deaf in one ear since he was a small child - again with no apparent cause. Additionally - becasue of the circumstances surrounding us having custody of our grandson, we are unable to approach his father for a family history. He has seen the paediatrician today regarding his 'kidney check-up' and is due to see an audiologist next week. I mentioned the possibility of Brachiootorenal Syndrome to the paediatrician and he had never heard of it, but did recommend speaking to the audiologist about it. What is the likelihood of my grandson having this syndrome given that he has two of the major criteria for diagnosis? View Answer		2008-06-25


	My son was born with Crouzon's syndrome and ptosis of the right eyelid. Could there be a genetic correlation between the two abnormalities or are they both separate genetic abnormalities? My husband and I have neither condition. Thank you very much for any information you can offer. View Answer		2008-06-24


	To Whom It May Concern: My niece (on my husband's side) has C.H.A.R.G.E. syndrome. She is 17 years old now and has made wonderful progress. My question would be - is there any testing that can be done before we decide to get pregnant? I know in rare cases, an affected person inherits the mutation from an affected parent. Is there a way to test for this? It is my husband's brother's child. If so, where can we get the testing? View Answer		2008-06-12


	I have a son with Peters' Plus Syndrome. I want to know if the gene can or would have been passed along to my other children. I would also like to find research about the disease. View Answer		2008-05-29


	My daughter is being tested for Rett Syndrome, and also has to see a cardiologist for a possible heart mur mur. My daughter has had many test done, they think she is autistic, she has hypotonia, she has sensory disorder, she has high level of social anxiety to where she was put on prozac, we give her melatonin so she will get some sleep as she is up all night, I guess Im scared and want to give myself piece of mind as she does talk just started here a month ago, and is doing well, she is 3. Could she have rett? View Answer		2008-05-29


	Hi, My sister as a genetic condition Costello syndrome, I have been doin some general reasearch just for myself, just to try and understand the condition, she is 21, i'm just wondering if the age of people with this condition is shorter than the average human. So is there an average age you no of, or perhaps reorts of the longest someone as lived with this condition, it would help me a lot if you could get back to me. Thank you very much View Answer		2008-05-28


	My sister was born with RSS. She is 23 4'9 and weights about 90 pounds. She has had several different medcial emergencies in the past years and is currently in the hopsital ICU unit have a form of seizures or covulsions. The doctors believe they are not true seizures because she does not loss full conciousness however her body constricts and violently shakes. Within the last 36 hours she has had that we know of 8. Is there anyway that seizures, convulsions or something of that nature could be related to the fact that she was born with Russell Silvers Syndrome? View Answer		2008-05-28


	i have a 20 year old daughter who has Smith Magenis Syndrome and wanting to know if her having Irritable Bowel syndrome, Cysts on her Overies, and deteriating lung problems is all to do with her syndrome and what is the life expanditure for the Syndrome. please reply as i want to understand it better. View Answer		2008-05-24


	My son died 3 days after birth in March 1987 was diagnosed with EVC Cause of death Hypoplastic left heart. My daughter who is my only surviving child will be married in a few months. She is a NICU nurse how ironic. I am jewish (eastern european Family tree) my wife is of Italian descent. Is ther any way to determine with her DNA and my future son in law the probability of history repeating itself. View Answer		2008-05-20


	My son who is ten has Albinism/nystagmus, he also suffers from low white blood cells and neutrophil counts (last one total white cell count 3 and neutrophil 1.1) he has had problems with his platelets in the past and also has had bowel problems over the years. I feel as though he could have a syndrome attached to albinism, blood has just gone across to USA to be tested for Hermansky-pudlak syndrome. I was wondering whether there was any other syndrome's that it could be and how I go about getting my son tested. Any information appreciated. View Answer		2008-05-20


	I am a mother of four children of my own and one step child. My second born has BWS, has had bi-lateral stage III wilms.My step daughter has had a rare melenoma on her lower back that had to be surgically removed, my first born daughter suffers from multiple allergies that she develops anaphalactic symptoms if she comes in contact with ( Corn and all corn products, peanuts, tree nuts,white potato,carrot, apple too many to list) so here lies my question, now my 4 y/o after 7 months of misdiagnoses, biopsy,ct scans,allergists etc.has come up positive for systematic sclerosis.with no clinical observations so far.they were doing ana for a large red annular erythmia of infancy that keeps occuring since dec 07 under her eye ( looking for sle) dr. says wait and see for symptoms to develop.This daughter exibited symptoms for BWS before birth so I was watched carefully during pregnancy and birth. I say we have too much hitting one family should I see a geneticist? View Answer		2008-05-19


	I HAVE TWO CHILDREN WHO HAVE TOWNES BROCK SYNDROME, WILL THE CHILD IM CARRYING NOW HAVE THE SAME GENETIC DISORDER? iS THIS SOMETHNG IM CARRYING OR HAS IT GOT TO DO WITH MY HUSBANDS GENES MIXING WITH MINE? View Answer		2008-05-16


	Do all AS patients have seizures? View Answer		2008-05-15


	My 12 y/o son was dx'ed w/CHARGE syndrome at 6 wks: coloboma of the R iris/optic nerve, low tone, ASD/peripheral pulmonic stenosis (both resolved), anteriorly placed anus, retractile testicle and low set ears. He was also dx'ed w/seizures at that time, later dx'ed with CP(PVL). Testing was done for the new CHARGE gene (neg). CGH done, also normal. A geneticist at VCU said he still most likely has CHARGE, but she also mentioned Kabuki due to his very heavy and long upper and lower lashes. I am not convinced by the CHARGE diagnosis, since he doesn't really look like the classic CHARGE kid. Other "quirks": a two-vessel cord, duplication of the R ureter, small moles in strange places (soles of feet/scalp). Since analyses have come back "normal" is it possible to still have a chromosome abnormality? I've heard about FISH testing. Would this show an abnormality even after a standard chromosome analysis? Is FISH a targeted test for a certain condition? Any help/advice would be appreciated! View Answer		2008-05-15


	My 8 y/o daughter has Waardenburg Syndrome that was diagnosed when she was 2 y/o. My question is, can this affect her dental health? She now has 13 cavities, which six with silver caps due to the severity. Some of the teeth capped are permanent. This is not to the a lack of dental hygene or diet. View Answer		2008-05-15


	Have recently done a Fish Test for my 3 year old daughter who has developmental delay ("not talking" but all other milestones were delayed). She has hypotonia, a friendly disposition, flaps when excited etc. She attends physio, speech and ot weekly. At first she was tested for angelman syndrome but this was negative. Then they were looking for a 22q deletion. For some reason they focused on 22q11 but she resembles the phelan mcdermid syndrome more. Anyhow this result came back as negative. Do I run the test again because I am not convinced? If they looked at the 11 in error, would it highlight the 13 if that is what she has? Do I accept this or try again? I am a desperate mother looking for answers? Thanking you in advance. View Answer		2008-05-13


	My granddaughter ie 23 months old and has alagille snydrome. She has only one bio duct in her liver and narrow blood vessal in her heart- some of the blood vessals were fixed. Recently I found out that she also has an enlarged spleen - what does this mean for her and is it a common problem with this snydrome? View Answer		2008-05-12


	I have 6 week old twins and strongly suspect one has Williams syndrome. We are awaiting a meeting with a geneticist and definate diagnosis. She has numerous abnormalities - low nasal bridge, buldgy eye area, pointy chin, umbillical hernia, hoarse cry. My question is is it possible to have the facial features of WS without having WS?? Is there any other explanation for the "periorbital fullness" assocated with WS? Her eyes bulge so much when she cries, she looks like a frog - it's very pronounced. Thank you. View Answer		2008-05-11


	I want to learn more about Williams disease. From what I read, I have the following in common: Perfect pitch Extremely small blood vessels Pointed ears, elf-like facial features Joint problems Soft skin (no stretch marks, 2 pregnacies) Digestive problems (stomach & bowel mostly) Dental problems (including TMJ) Sensitive hearing (can hear what other adults can't) Anxiety attacks What I don't have: Mental retardation (IQ 120) Heart problems (both sisters have heart problems) High blood pressure (younger sister has HBP) I am a 36 year old female with two children. Any help or information you could provide would be great. I would like to know if I have this but my insurance doesn't cover testing, so if you know of any trials where I could get tested in exchange for participating it would really help. Thanks! View Answer		2008-05-10


	I have a brother with CRASH syndrome. I know that it can be passed genetically and that it is very rare for girls to have it. I am wondering when I have children if it is possible that they could have this? View Answer		2008-05-09


	My mum has no digits on one hand, after an xray it showed missing bone in her forearm, and fibrillation. my son had an asd closed 6 months ago,and has an extra joint at the base of his thumb. my 2nd son also has an asd, and my 3rd son died due to hydrops,asd, hypoplastic aortic arch. does this sound like holt oram syndrome? View Answer		2008-05-05


	I am an audiologist who, as fate would have it, have a daughter who was born with mild-moderate sensorineural hearing loss. My main fear is that she has Usher Type II. She has had testing with the Asper Gene Chip for Usher, which was negative. I am wondering how many genes for Type II have yet to be ID'd. What percentage of Usher II does the Asper rule out? When will a complete gene chip for Usher be available? Thank you. View Answer		2008-04-28


	Is there a genetic rest for Rubenstein-Taybi syndrome? Should relatives (in this case cousins) of an RTS patient be tested to determine their ability to pass RTS on to their children? View Answer		2008-04-25


	My daughter has Rett Syndrome and I was wondering if there are any medications, antibiotics, anesthetics or anything that would cause an allergic reaction that she cant have with this disorder? View Answer		2008-04-24


	Have medications for ADHD been effective in addressing the attentional issues associated with Sotos' Syndrome? I'm also wondering about the impact of associated neuroanatomical differences on learning. I work with a 4th grade student with Sotos' Syndrome who tests in the high average range on academic measures of writing performance but cannot perform in the classroom where the writing requires more creativity and complex organization. I'm wondering if this is related to the decreased size of the corpus callosum in individuals with this disorder. View Answer		2008-04-21


	Please tell me, what are the methods of early detection of Lesch-Nyhan Syndrome? For example: Are karyotypes made from amniotic fluid? View Answer		2008-04-21


	Someone special to me is diagnosed with Usher Syndrome type 3. Currently at the age of 23, she's having night blindness and have difficulty walking at night due to the 'tunnel effect' she is experiencing. I was told that her hearing and vision lost started to worsen four years ago. Based on the given information and the rate of her defects, how long does it take for things to get worst? Will there be any other way to delay the effects other than just taking vitamin A. Is there any other way or methods I could advice her to take? Add on to that, does patient with usher syndrome type 3 will definately go completely blind and deaf? or has there been cases that some still retain a percentage of their vision and hearing? Thank you very much View Answer		2008-04-15


	I have a child which I was told had Digeorge syndrome until her fish test came back negative. Deep down inside I do believe she has this or VCFS. My daughter was born which a reversed aortic arch, cleft palate, small chin, narrow jaw, small ears, feeding problems, hypotonia and is very delayed. She was seen by 3 different geneticists and I recieved the same result. They did two different test to discover their diagnosis, a renal ultrasound and a fish test. What do you think I should do or think? View Answer		2008-04-13


	Although much information about Waardenberg Syndrome is available, I cannot find a definitive answer to the following question: What is the likelihood of progressive hearing loss in each of the various types of Waardenberg Syndrome? Thank you for your time! View Answer		2008-03-31


	If my 7 mos. old daughter has a half-sister that has the chediak higashi syndrome is she at risk of having the disease herself? In order for the first child to have the disease is it true that BOTH parents have to carry the mutated gene that causes the disease? Or does only one parent carry both genes in some cases? View Answer		2008-03-31


	We would like more information regarding the incidence of Pierre Robin Sequence in siblings and in families. View Answer		2008-03-31


	Hi, I found your contact information while researching information re: Allan-Herndon-Dudley Syndrome. I work as a behavior specialist in an agency that cares for developmentally disabled adults. I have one 49-year old male participant who is diagnosed with this disorder as well as moderate MR and noticed he tends to zone out, for lack of better words, for extended periods of time. He becomes non-responsive to others and his environment and has frequent toileting accidents during these episodes. I?m wondering if these episodes are related to his Allan-Herndon-Dudley Syndrome? And if so, what would be an effective way to address it in order to effectively communicate? Any information regarding this would be very helpful. Thank you in advance. View Answer		2008-03-25


	Doctor,Do let me know that can robert syndrome or holt oram syndrome can be treated. How expensive is the treatement. Can gestofit tablet cause any abnormality in a new born.Thanking You View Answer		2008-03-24


	Hello. My daughter was recently dignosed with Noonan Syndrome. Testing revealed a missense mutation in the KRAS gene. My husband has been a pack a day smoker for at least the past 10 years. My question is this: could my husband's smoking cause damage to cells or cause a gene mutation resulting in this anomoly? I am not trying to point any blame, but my husband and I would like to have more children. (my daughter passed away from complications to this disorder on Jan 30, 2008). If smoking could even cause mild damage, I would like my husband to quit smoking immediately. Maybe if he hears the expert's opinion, he may be motivated to quit sooner. Also, if this smoking is damaging, how long should we wait to have children after he quits? Is there a chance for cellular repair? I would appreciate any information regarding this matter. Thanks! Sarah View Answer		2008-03-20


	I have a student with Simpson-Golabi-Behmel syndrome that I am evaluating for ASD. While I can find information regarding physical and medical features of SGBS, I can't find any statistics regarding co-morbidities such as ADHD, ASD, or language disorders. I am aware that cognitive deficiencies sometimes co-exist, but I am unaware or cannot find information on the prevalence. Any help you could give would be appreciated. View Answer		2008-03-20


	I have always wondered why I have so many "birthmarks". I have a black patch of hair where my soft spot was as a baby, while the rest of my hair is blonde. I have blue eyes, but one eye has a large area of brown in it. I also have a Port Wine Stain birthmark on my back that is medium in size. I have come across Waardenburg Syndrome in my quest for answers, but none of the information I have seen says anything about a black patch of hair being common. As a matter of fact, I have only seen one person ever in my life with a natural black patch in their blonde hair and that was very recently. Could I really have Waardenburg syndrome? No one in my family, has ever had the distinctive hari colors and none of my three children have it either. View Answer		2008-03-14


	My daughter was diagnosed with AIS two years ago. She had a gonadectomy operation. DNA tests have not detected any mutation on the AR gene. I don't understand what else could have caused the AIS. View Answer		2008-03-12


	I just need to know about Mowat-Wilson Syndrome? View Answer		2008-03-11


	Is there a cure for Angelman Syndrome? or on the Horizon? Thank you. View Answer		2008-03-11


	Hi, I'm a teacher of a 9 year old who has just been diagnosed with William's syndrome. Her parents speak very little English and are struggling to understand the condition and how it will affect her later in life. The main question that they would like answered, and one I can not find an answer to, is how long her life expectancy is. Please could you help fill me in on this so that I can put her parents minds at rest. Thank you View Answer		2008-03-04


	Hello,...please help!! my 3 years old daughter is being diagnosed a Stickler, and i would like to know if you could help me with this.When I was pregnant she was diagnosed Acondroplasia by ecographs. She borned and the severe acondroplasia was discarted, but since then, her DNA has been under studies for SKELETON DISPLASIA. Last year, we discovered she had a Myopia Magna, and also hearing loss, additionally to her skeletal abnormalities. We are now working with the Endocrinoligic Service in La Paz Hospital, Spain, but I need to know where the genetic study can be finalized to be able to confirm or discart the Stickler Sindrom. Thanks you very much in advance. View Answer		2008-03-02


	My daughter is 11 years old and is currently going through a series of tests to determine what type of neurological problem she has. She was just seen by the eye doctor and he mentioned Sotos syndrome. Naturally I looked up the syndrome and see a lot of simularities in my daughter. She is ADHD, sever lanugage & learning delays along with weak muscle tone and poor balance. But she doesn't have the characteristic facial features associated with the sysndrome. Is is possible to have the sotos syndrome without the facial features? Thank you for your time. View Answer		2008-02-29


	When is Melnick-Needles syndrome diagnosed? View Answer		2008-02-25


	No thymus, hypocalcimie, important problhms to eat, a strange face.... Di george ? View Answer		2008-02-20


	I AM A 24 YEAR FEMALE.ME AND MY FIRST CHILD[MALE] BOTH ARE SUFFERING FROM CROUZONE SYNDROME. I HAD ONE SURGERY AT THE AGE OF 3.NOW I DONT HAVE ANY PROBLEM BUT MY CHILD IS SUFFERING FROM SAME PROBLEM.HE HAS ALREADY UNDERGONE 3 SURGURIES INCLUDING V-P SHUNTAND MANY MORE SURGERIES TO GO.IS THERE ANY TEST THAT CAN DETECT THIS SYNDROME DURING MY SECOND PREGNANCY.IS THERE ANY TREATMENT THAT CAN BE DONE BEFORE DELIEVERY SO THAT I CAN HAVE A NORMAL CHILD View Answer		2008-02-19


	My 7 month old daughter has just recieved her chromosome test back and she has been diagnosed with Angelmans Syndrom. What I am wondering is if there is any chance this could be a misdiagnosis or is it something thats not in the gray area when diagnosing? Or is there any similiar conditions it maybe mistaken for? View Answer		2008-02-15


	My daughter has recently been diagnosed with CFC Syndrome with a Braf mutation. My question is: a mutation at position G596V on the Braf gene - is that located on exon 6 or on a different exon? View Answer		2008-02-15


	My husband has stickler syndrome and is concerned about having children and passing the condition on. Since there is a 50% chance or passing this condition on, what are the best options for a couple that wants to have children without passing this condition on to them? View Answer		2008-02-07


	can a child of 7yrs first time present at this age with features of rett syndrome? We have a child 8yr old female presenting with excessive crying and sighing respiration since 1 yr; voilent behavior since 1 yr; decreased speech output since 10 months; hand wringing movements since 10 months; This child was normal upto 1 yr back when these symptoms started and birth history is also normal.No seizures.on examination has microcephaly and mild hypertonia.Could she be having Retts syndrome given the late onset of presentation but other features quite typical of retts? View Answer		2008-02-07


	I have a couple questions about hutchison-gilford progeria syndrome.My first one is do their minds develope at the same rate thier bodies do or,do thier bodies age fast and thier minds are the same as thier real age?Also a have to make a poster for my science class with visual aids.Do you have any websites with pictuers and possibly diagrams of how the desease affects the lmna-gene in the body.thank you in advance for helping me awnser tese questions! View Answer		2008-02-04


	Is there anything that a child with progeria can do to live to thier 20's instead of dying at seven. View Answer		2008-02-04


	my niece (my sister's daughter) just diagnosed with Angelman Syndrome. There are no known cases of this syndrome in my family, my husbands or my brother-in-laws. Is this something that I can be tested for to see if I carry a mutated gene? Or my husband? We would like to have children and I am a bit concerned... none of my research so far seems to clarify on parental gene testing. Thank You. View Answer		2008-02-02


	My son is now 21 years old. He was born with Smith-Lemli-Opitz syndrome. Over the past six months his self injurious behaviors have become severe. He is followed by UCI's Neuropsych clinic and we have tried many different medications. His behavior is getting worse and we do not feel we can keep him safe. Are there any doctors, clinics, or programs that work with these problems? Is there any help? Thank you. View Answer		2008-01-29


	My husband's mother, sister and brother have been diagnosed with Tourette syndrome. My husband does not have tourettes. What is the probability that he may be a carrier and pass on when we have children? View Answer		2008-01-20


	I am working with a child diagnosed with Pallister-Killian Syndrome. Would it have been possible to diagnose this prenatally? He had been found in utero to have polyhydramnios; his mother subsequently had an amniocentesis which indicated a normal 46 XY karyotype. View Answer		2008-01-17


	My husband and two boys have Long Qt Sydrome. Through genetic studies, the mutated gene has been recognized. My youngest son was also diagnoised with periodic paralysis...the neurologist and cardiologist say they are not linked. He taked diomox daily along with his nadolol and the paralysis has stopped. He is now 12 yr old and the shortest kid in his grade....I'm starting to wonder???? I'm 5'11, husband 6'1, and oldest son (15 yrs old) is 6'2...My 12 yr old is not even 5 ft. What do you think? View Answer		2008-01-15


	I am 22 and I have crouzon syndrome. when I was born the medical people researched both my parents genes and tracked them to see where I got the crouzon syndrome from but they didn't find it. So my question is how likely is it that I would pass the gene to my kids. I don't have any children yet or not expecting now! Would it be in all my kids or certain one? View Answer		2008-01-10


	My son has cdls and complains of his elbow hurting. He is in a developmental center and they had his elbow x-rayed and says it has shown no change, he has chronic dislocation of the elbow. Is this common in cdls? If so, Is there anything that can be done to relieve the pain? View Answer		2008-01-10


	Does Hutchinson Gilford Progeria Syndrome, for lack of a better word, pop out of no where or is it carried from generation to generation but no signs are shown until a certain mutation happen? And if a sibling has HGPS does that mean most of the other siblings have it? View Answer		2008-01-03


	Who is Generally affected by Williams Syndrome? View Answer		2008-01-02


	Hello. I have alports syndrome & developed kidney failure at the age of 16. I know that i have this because of a biopsy that was peformed in 1988.However i do not know what type of alports i may have.I am hard of hearing & also wear glasses. I am 35yrs old now with a healthy transplanted kidney. I would like to start a family with my wife. Can you tell me my risks of passing this disease down to my children. Thank you. View Answer		2007-12-30


	Please could you answer my question with regards to cornelia de lange syndrome. Is there any connection to incontinence with this? Would someone with this syndrome have any sensory issues with regards to lying in urine and refusing to change clothing for sometimes long periods of time? This person can use the toilet but will often refuse to preferring to urinate lying down, clothed and often in bed.Any thoughts would be helpful. Thankyou. View Answer		2007-12-21


	Our 5 year old adopted daughter from Russia has been diagnosed with "Tricho Rhino Phalangeal Syndrome, Type 1" We are wondering if there are any research studies being conducted on this and if yes how we could participate. View Answer		2007-12-20


	What are the odds that a Sotos Syndrome patient passes on the disease to their offspring? View Answer		2007-12-20


	I think we may have Waardensburg in my family, though not diagnosed. Myself, Mom, Uncle, cousin, a cousin's child, brother, son all have "cookie bite" shaped audiograms from mild to profound hearing loss. My deaf cousin's son has very widely spaced eyes, he's too young to detect hearing loss. I have a white patch of hair on my crown, my son had deep dimples on his medial line on forehead and buttox which closed up naturally, no cleft in his chin. I had a My Mom and Uncle's mother had a bride of frankenstein white forelock. Might this be Waardburg syndrome? View Answer		2007-12-18


	My 17 year old son was diagnosed with Tourette Syndrome in 1996. In 1998, a psychoeducational evaluation revealed that he has characteristics of Non Verbal Learning Disorder. I have witnessed the characteristics of both of these disorders while raising my son. (I also have a son with Autism.)What is even more apparent is looking back and understading that both my brother and my father also had displayed the same characteristics. The difference here is that neither my father or my brother know that they have the diagnosis. Is there a study underway of individuals within families with these conditions? View Answer		2007-12-17


	hello,i am 35 years old and i have bllom syndrom. i wanted to ask if i can have childran and what kind of test should i take? i also resive gamaglobolin twice a year i.v,and i also have gaut but i dont get any medicitions for that. thank you View Answer		2007-12-15


	how many chrosomes do a person with trecher collins have? View Answer		2007-12-09


	What is the life expectancy for someone with Waardenburg syndrome? View Answer		2007-12-06


	my two daughters My two daughters are having Laurence-Moon-Biedl Syndrome. According to the Doctor's diagnosis, they have Laurence-Moon-Biedl Syndrome.In 2001, we consulted Dr.A.F.Massoud, Consultant Pediatrician and Endocrinologist, in Portland Clinic, London. Unfortunately, we could not find solution to the above syndrome. We are worried a lot about our children, as their conditions is going bad to worse. Apart from gaining more weight, they are suffering from gradual loss of vision in darkness. It is highly unbearable to see our children suffering and we have no option but to see them suffering, helplessly. We heard that sometimes God Almighty would come to help people like us, in the form of human. As we have no hope left, we are relying on you so much, thinking that you must be that God in the form of Doctor. Kindly help us and save my children.one daughter is now 18+ and other one is 13+.Kindest Regards View Answer		2007-12-05


	I am 18 years old and earlier this year I was diagnosed with Rokitansky (MRKH) syndrome. I have been given quite a lot of information about my condition, and although I am not planning on having children anytime soon, I would like to know, if I were to use a surrogate mother to produce my own, biological children, what the chance of passing this disorder onto my children would be. View Answer		2007-11-26


	What are the prognosis of someone who has Menkes syndrome? View Answer		2007-11-25


	I seriously suspect that my mother had Willaims Syndrome; what testing can I and my siblings undergo to learn if our deceased mother did indeed have WS? Will tests on our DNA absolutely determine if she had WS?Is there any research about children of individuals with WS -- particularly and specifically where the children are not retarded and do NOT have WS? Everything I find online is written only for parents who have a child with WS. Is there absolutely no information about normal IQ children of WS'rs, when again and again and again it is stated on many webpages that each of the children of individuals with Williams Syndrome will have a fifty percent chance of inheriting WS from them? And what does it mean when it is written that Williams Syndrome occurs in one out of 7500 - 20,000 births? Isn't there something peculiar about such a wide range of births?Does any information exist about individuals with Williams Syndrome who have normal and/or above average IQs? View Answer		2007-11-21


	My son has WS and is going to the dentist for the first time. His dentist has not heard of Williams Syndrome. I would like to know of specific dental abnormalities that are poosible so that I can share the info. with him. (Other than small, widely spaced teeth with malocclusions) Thank you. View Answer		2007-11-18


	Dear Sir / Madam,Would you kindly advise me, if a patient suffers from Angelman's Syndrome with the mechanism uniparental disomy, does the diagnosis read, uniparental disomy of q11-q13 chromosome 15.Or does q11-q13 refere to the deletion in the maternal allele of chromososme 15?As I understand, if a patient has uniparental disomy, there is no reference to the deletion in q11-q13 regions of chromosome 15, that patient has only recieved the genetic material from the father, and no genetic material from the mother.Would you kindly help me with this answer.I look forward to your reply. View Answer		2007-11-14


	If I am 40 years old and have LNS, how much longer can I expect to live? View Answer		2007-11-12


	Is anyone investigating whether abnormal transferrin levels are a previously unrecognized feature of Prader Willi Syndrome? I have a son that has PWS by UPD whose diagnosis was delayed due to having high levels of asialotransferrin. View Answer		2007-11-10


	I am an internist in Stamford and I have just "inherited" a patient from her pediatrician with Blooms syndrome. She is 19 years old. I want to know at what ages are appropriate to begin screening for cancers: pap (should it begin now even if not sexually active), mammo, colon, skin (I assume should be done). Other than routine blood tests for liver, leukemia, anything else (radiologic or serologic)to be done? She is one of 9 siblings, 4 of whom had blooms, 2 of whom have died in teenage years from Wilms and liver Ca. Thanks. View Answer		2007-11-08


	My husband and I find we are expecting a baby, actually I was well into the 1st trimester before we realized. We have three sons, 6 and 7 year old normal pregnancies, healthy babies/ children. Our youngest is +PWS UPD. I am 41, and healthy although I had been diagnosed with diminished ovarian reserve. My question is this; are there any statistics on recurrence of UPD? We are seeing a genetics counselor out of Robert Wood Johnson and I have a level II u/s in the AM. Also pending are methylation and FISH of 15, and a CGH (michro array); chromosomes were normal. Aside from the methylation of 15 our son would have "passed" all the tests we are having done prenatally now. Is there anything to suggest we should be at elevated risk for another UPD-like occurrence somewhere we are not looking? with thanks in advance View Answer		2007-11-08


	i am currently looking after a 44 yr old male with slos;I am trying to find out if there are any older people with this syndrome that you are aware of ? He has been having really bad behavoiral promblems these past few months and wondered if you could tell me why and if this will get worse. Thank you i look forward to hearing from you. View Answer		2007-11-06


	What is the genetic cause of Allan Herndon Dudley syndrome? View Answer		2007-10-30


	I work with a young man as his ASL Interpreter/Teacher's Assisant. I have recently been informed he was diagnosed with Noonan's disease. He is in foster care and I have no documentation on the extent of his cognitive challenges and learning disabilities. He does use ASL to communicate and his English reading skill is in the grade 1 spectrum. I am wondering if you would be able to elaborate on some of the potential learning disabilities I can expect. I do work with him under a teacher's direction one on one and the more I am aware of how to adapt to meet his needs, the better able I'll be to support him in learning new information. I am also wondering about the problems with language point stated in some research information. Does that mean the inablility to learn language or short term memory problems? Thank you for taking time to respond to my queries. View Answer		2007-10-29


	My son is 2 years. He was born with VSD and has had MANY medical issues, we did a microarray study along with aminoacids, regular DNA test, etc, etc and he has Smith Magenis Syndrom. He is going all the therapies we can afford but his Physical therapiest does not know if or how this syndrom can affect his therapy sessions. The cardiologist told me he has no restrictions, he knows my son has Smith Magenis. What things should I be concern with when he does therapies? Would duration of therapy harm him, intensity? THe doctor told me that within his deletion it is very small and he is at the lowest level of the spectrum, I know this implies learning disabilities but would it be serious mental retardation? He has learned a lot of this although delayed I am happy to see milestones coming through, he is still speechless, do they speak? or would he never speak.... he makes little sounds but do not resemble words.... What is their life expectancy? View Answer		2007-10-23


	Is there any other abnormalities linked to waardenburg syndrome that can cause chronic constipation besides hirschsprungs disease? View Answer		2007-10-18


	HELLO,I WAS DIAGNOSED IN 1971 AT THE UOWISCONSIN, AND IN 1996 AT THE NIH, AND ALSO AT MAYO CLINIC WITH STICKLERS SYNDROME. MY THREE CHILDREN ALSO HAVE THIS SYNDROME WHICH IS IN CHROMOZONE 12.NOW I AM 64 YRS OF AGE AND HAVE BEEN ILL FOR MANY YEARS WITH MUSCLE WEAKNESS, EXTREME FATIQUE, SEVERAL FALLS, BREATHING PROBLEMS, NERVE INFLAMATION, ETC. NO ONE REALLY CAN FIND OUT WHAT MY PROBLEM IS, THEREFORE I ASK YOU:I WAS TOLD IN 1996 THAT THE TYPE OF GENETIC PROBLEM I HAVE INDICATES THAT "I AM LUCKY THAT I DON'T HAVE MUSCULAR DYSTROPHY". WITH SUCH EXTREME FATIQUE, WEAKNESS, LOW GRADE FEVER, RESPITORY PROBLEMS, SLEEP APNEA, ETC. I AM WONDERING IF I COULD HAVE GOTTEN MPD AROUND THE AGE OF 57? THE LAST TWO YEARS I HAVE BEEN SO ILL THAT I CANNOT LIFT THINGS, EXERCISE, OR WALK VERY LONG, ETC.PLEASE LET ME KNOW WHAT YOU THINK! THANKS View Answer		2007-10-17


	My husband has Holt-Oram Syndrome. It was passed to both our children. We were told after our first child was born that the gene that is affected by this has been found. Is there a way to prevent my children from passing this gene to their children....as in artificial insimination or something else. I would like to see this syndrome stopped. View Answer		2007-10-17


	I was told by a nutritionist/biochemist that I have the genetic predisposition for Bloom's Syndrome. She suggested that my body has been fighting certain viruses for most of my life that weakens my immune system, particularly my pancreas. This is somehow related to Bloom's Syndrome. Does any of this make sense to you? My understanding is Bloom's Syndrome is a genetic disease and if you carry the genes, one would have the symptoms. I am 54 years old and in pretty good shape except for digestive sensitivities and being overweight. Thank you for your response. View Answer		2007-10-16


	Hi,How often is Angleman syndrome misdiagnosed? Assuming that it does get misdiagnosed what conditions does it get confused with? Is one of these cerebral palsy? Thanks View Answer		2007-10-14


	What are some strategies I can use to help a student with Sotos Syndrome be more successful in the classroom? View Answer		2007-10-11


	Hello!I'm a Speech Therapist in a public school and have a first grade student with CCM. He occasionally stutters and we're working on reducing those tendencies by teaching coping strategies. It is now starting where he is "stuttering" while reading aloud in class. He can read fine to himself and has great comprehension, but when it comes to class reading, the teacher doesn't know which group to put him with--- the good readers or the low readers! I'd like to work on improving reading with ease in my classroom, but don't know what to do! I will gladly take any kind of info. you can give me! In my 13 years of this, this is the first like this!Thank you so much. View Answer		2007-10-09


	My husband's mother and sister have Waardenberg, what I belive to be type I- they have the white forelock, different color eyes, broad nasal root, and deafness in one ear. I always assumed my husband didn't have it b/c I never saw any characteristics. Now that we have been trying to get pregnant I have noticed that he has several white hairs mixed in all over his head (not noticeable unless you're looking for it), and a small patch of white hairs on the right side of his moustache (like 4 hairs). He is 27. Is this something I should be concerned about? What are our options for trying to prevent this from being passed on to our children? View Answer		2007-10-07


	I have a patient with suspicion of alport syndrome with esopophageal leiomyomatosis.What my question is, what is the easy method to confirm the defect of X chromosome in molecular study at present?or what resource I can get to make diagnosis? Thanks for your help! View Answer		2007-10-05


	Genetic tests (FISH) have identified that my 20 month old son has 22q11.2 microduplication. In addition to various developmental delays and craniofacial features, he has had feeding, coughing, reflux, and vomiting issues throughout his life, as well as some breathing issues. I am wondering if he has a form of Opitz syndrome because his symtoms really seem to match. View Answer		2007-10-04


	My child has never been officially diagnosed with Sotos Syndrome, however, 5 years ago a geneticist in SC stated that she "thought" that this is what she has. I understand there is actually a blood test for it now. How can I get this done and are there any pediatric physicians in AL that have delt with this before? My pediatrician is ok with the "normal" children but seems to have quite a few misunderstanding when it comes to my youngest daughter. View Answer		2007-10-02


	My one month old son has been diagnosed with Prader-Willi syndrome. We've done a lot of reading and research. I have 2 questions:1. Is there anything on the horizon as far as an appetite suppresant or treatment for hyperphagia? 2. Do people with PWS experience hunger symptoms like you and I? For example, when our stomachs are empty it begins to rumble, etc. but since people with PWS have food in their stomach but still feel hunger, is it the same type of feeling? I just can't fathom having that feeling all the time. It truly is a very cruel condition. View Answer		2007-09-30


	Can a patient without craniosynostosis have Crouzon Syndrome? View Answer		2007-09-24


	There is a family history of what is believed by our son's genetist to be GREIG CEPHALOPOLYSYNDACTYLY SYNDROME.Our son was born with extra pinkies, extra great toes, webbed fingers and toes, enlarged ventricles in the brain. His father, grandfather, aunt and cousin all have similar symptoms, to a lesser degree. My question is; is there a relation to this syndrome and late teething. Within our family there seems to be correlation. My father-in-law is one of 6 children, he the only one to break his first tooth after 18 months. My husband and sister-in-law, also teethed after 18 months (an unaffected sibling teethed within the normal age range).My niece and my son also I would consider late to teeth. My son is 24 months with only 6 teeth. (though he can chew anything!) My other 3 unaffected children teethed at a normal age. I have not seen any information regarding this correlation, but wondered if this had been anything that was noticed by other families or doctors. View Answer		2007-09-23


	I just wanted to know what are some of the limitations of Coffin-Lowry Syndrome as well as what is the everyday life and quality of life of somebody living with this syndrome View Answer		2007-09-19


	I am writing a paper on Angelman Syndrome and have a set of TWINS with AS. Can you please tell me the stats of twins/multiple births diagnosed with AS? Also can you tell me the stats on caucasions vs. blacks, hispanics, asians, etc...??? I would greatly appreciate the answers!!! View Answer		2007-09-18


	I was never diagnosed, but while undregoing an IVP to monitor my kidneys was told by a lab technician that my traits match those of someone that has Klippel Fiel syndrome. I have fusion in the cervical area, a short neck with low hairline and "horseshoe kidneys" where one kidney is not fully developed. I am 50 years old and while undergoing routine check-ups I was tested for bone density. It appears that I have the bones of an 80year old in the hip area and are a high risk of fractures. I am going to start on "Teriparatide" therapy for osteoporosis, I was wondering whether there is any link to Klippel Fiel and what other health issues I should be concerned about. Thank you for your assistance. View Answer		2007-09-17


	my son has noonans syndrome and autism most of the cases i have read have mental retardation not autism can you tell me about any cases you know of where the children have both thank you View Answer		2007-09-12


	My daughter was just recently diagnosed with Noonan's Syndrome. She was finally tested for this syndrome because her diagnosis for learning disabilities was the final link to pin point a syndrome. Is there anything that you could tell me about getting more school help? She is already involved in the Special School District classes (SNAP) after school and recieves resource at her parochial school. Is there a possibility of qualifying for any grants or anything? Anything thing you can tell me or send me would be a great help!! Thanks! View Answer		2007-09-11


	what is the background on "Vater's Syndrome" and is it an inherited disorder? View Answer		2007-08-29


	What causes congenital bilateral perisylvian fissure syndrome? View Answer		2007-08-18


	My husband's maternal grandmother, mother, sister and niece all have Crouzon Syndrome, as did a nephew and a maternal uncle, both of whom passed away. The history in his family seems to be that only those people where the gene is actually expressed seem to pass it on to their children, e.g, my husband's mother passed it on to 2/4 children, whereas her brother (who does not have the syndrome) did not pass it on to any of his 6 children. My husband does not have the syndrome, and there is no known history of it in my family. Are we at risk to have a biological child with Crouzon's? View Answer		2007-08-17


	I would like to find out more information on Usher syndrome type 1B. Do you know of any resources where I can find out about this particular type of Usher syndrome? View Answer		2007-08-09


	Dear Sir or Madam: I have Treacher-Collins Syndrome - an autosomal dominant genetic defect as I understand it. I am female, 31 years old and thinking about children. If I do nothing and my partner and I go ahead, there is a 50% chance the defect would be passed on. I grew up on facial reconstruction operations and have bad hearing. I have relatively mild symptoms and our child could get anything from mild to severe... I don't like the odds. With all the genetic research going on is there anything happening which could raise the odds in our favour. I was thinking along the lines of - if I gave an egg, my partner sperm, could it be ensured that a fertilized egg gets my partners 5th chromosome instead of mine? I know very little about it and would appreciate any information you may have or perhaps you could refer me to somone closer to home (southwest Scotland). Thank you. View Answer		2007-08-05


	Are there any vaccines which cannot/should not be administered to a child with Crouzon's syndrome? View Answer		2007-07-28


	Hello. I have a two year old daughter who was born with what we believe (and were told to be so by our craniofacial team) to be isolated Pierre Robin Sequence. I recently gave birth to another daughter -- she's now three weeks old -- who also has Pierre Robin Sequence with no apparent related syndromes. When we had our first daughter, we were told by a geneticist that we didn't carry markers for Pierre Robin, and that to have another child with this issue would be "like lightening striking twice." What could be the reason for this repeat in Pierre Robin? What is the likelihood that our daughters will have children with Pierre Robin? I haven't yet heard of another pair of siblings who both have Pierre Robin. Oh, and neither in my nor my husband's families are there any other incidences of Pierre Robin, small lower jaw, or clefts. Thank you. View Answer		2007-07-18


	I'm in the first months of pregnancy and the father of the child has Tourette syndrom. I'd like to know what are the chances for the child to inherit father's syndrom? View Answer		2007-07-10


	I have been diagnosed with Holt-Oram Syndrome. My mother also has the syndrome. However, her parents both appear to not have the syndrome. Is it possible for 2 parents without the syndrome to have a child with the syndrome? Any information you could give me would be very helpful. Thank you for your time. View Answer		2007-07-07


	My daughter shows signs of CDLS. She has been followed by a geneticist since birth. She is now almost 4 years old. Her geneticist doesn't think she has CDLS because she "is too pretty"(her words, not mine). Her endocrinologist has several patients with this diagnosis and thinks that she may have this. We have done the test for NIPBL mutation and are awaiting results. I really feel like this is the correct diagnosis for her. What are my options for testing? Is there a geneticist that specializes in CDLS that could give better info and tell us one way or the other if it is indeed CDLS? Also, my older child has autism is this related somehow? View Answer		2007-07-03


	My husband and I have 4 sons, the first two were hearing and the last two were born profoundly deaf. My husband and I are both hearing. My husband's mother went profoundly deaf in her late teens, cause unknown but there was no known illness or disease at that time (though she was told it was from loud music, something that ENTs now laugh at). We do not know if there is a connection between her hearing loss and our boys, but it is assumed there might be. The oldest of our two deaf children was tested for connexin 26, which was negative. We are currently undergoing blood tests for Usher syndrome because he also walked late, at 19 months. However, this wouldn't make sense with my mother-in-law's deafness, would it? If their loss is related to hers, what kind of inheritence would this be (I get confused reading about the recessive, dominant and x-linked, but none seem to work with our configuration)? We had a geneticist when our older deaf son was a baby, and I suppose we need to return to one now with the youngest, but at the time nothing was discovered, though some things were eliminated (he had nothing wrong with his heart, kidneys, etc) . Both boys have bilateral cochlear implants and are doing very well with them. Thank you for your time. Over the years I have spent quite a bit of time researching causes of deafness, but I have yet to figure out a likely cause for my boys, or a test for that cause. View Answer		2007-06-28


	My niece has Rett Syndrome, and is now in her mid twenties. I have heard that there is a potential treatment, but have not been able to find any actual medical journal articles on this discovery. Can you direct me to any, and if you are aware of this, can you tell me what the treatment would be, and how long before it would be available. View Answer		2007-06-16


	Will I be able to have children? Will I be able to have children without the child getting Noonan's? Also will the child be a normal child? Do I need to see a genetic doctor before having children? View Answer		2007-06-12


	I am a 20 year old female with Sticklers Syndrome. I was diagnosed when I was around 4 years old because my jaw was very small, my eyes were slanted, I was flexible beyond a normal range, I had migraines frequently, and I had joint pain. I was hospitalized when I was 6 or 7 for my growth being far too quick, but a year or two after that I stopped growing entirely, and I have been 5'3.75" since. I have been in and out of the hospital lately for problems with my stomach that the doctors can't diagnose, but recently new pain has come in. I was wondering if Sticklers Syndrome would explain why I am now experiencing extreme pain in my shoulders, back, legs, hips, and feet. I haven't heard anything about Sticklers causing severe stomach pain or anything along those lines, so I want to give the doctor a heads up if he is dealing with two separate issues here, especially since none of the doctors I have ever seen have even heard of Sticklers Syndrome, I always have to provide information. View Answer		2007-06-06


	hello, i have 3 sons and 2 daughters and 2 of my sons have lost thier kidneys because of alports My parents come from large families and none of them or my parents have alports so i am wondering why i had it and passed it to 2 of my sons. my father was in the army all his life and fought in world war 2 we lived near chalk river ont where there was a neucular plant and i am wondering if any of this caused me to have alports? View Answer		2007-05-22


	My daughters pediatrican said that she may need to be tested for sotos syndrome. How is this done? She is 5 yrs. old and average height of 8 yr. old according to growth charts. She has Erbs palsy and is having to repeat kindergarten due to learning problems. She does have a wide forehead. Does this sound like she may be affected by this? Thanks for your time, Heather View Answer		2007-05-16


	My son age 28 has Kallmann's syndrome. He has been treated for this since childhood with testosterone and calcium to alleviate the accompanying osteoporosis. Evidently there has been some accompanying neurological damage to the thalmus/hypothalums area which results in learning disabilities specifically in the critical and higher order thinking levels. While he has an average IQ he can not master the normal activities of daily living without cues and support. The most recent neuropsych we had done indicated this was due to damage in those areas. He has always had a strong body odor. It is hard to be around him, the smell permeates the area, and even after he has left the odor remains attached to furniture and fabric he has been near. We had in the past attributed this to the poor hygeine, however, even when I wash his clothes, and he is supervised in showering to ensure that he indeed washes correctly an odor still exists. Is there a connection between trimethylaminuria and Kallmann's syndrome that is known. Has anyone ever done a correlation study about this? Any help would be greatly appreciated. View Answer		2007-05-16


	A person with Williamson Syndrome - could they eventually have bladder problems as they get older because of their health issue? View Answer		2007-05-10


	My child is going through genetic testing for Angelman Syndrome and Rhetts Syndrome. If she is diagnoised with one of these syndromes what is the chances of having another child with the same or simuliar condition? View Answer		2007-05-08


	I have been reading about Wagners/Sticklers disease and am wondering if it is possible that I may have this. As a youth, I was extremely flexible and in gymnastics. Now as an adult I have Degenerative Joint Disease, MRI shows mild scoliosis. Some mornings it hurts just to get out of bed. My opthamologist states that I have vitreous liquefaction and my eye problems are worsening...halos, floaters, and lights. In one eye, everything appears a darker shade. I have some hearing degeneration in my left ear and am constantly asking others to repeat themselves. But I do not have the "flat face" or cleft palate that is usually associated. I do have migraines, with aura. Recently I had a brain MRI with and without contrast which showed normal. I have had tachycardia since childhood and occasionally have pvc's. I am wondering if I should approach my physican with this, but don't want to appear to be a hypochondriac. :) What do you think the chances are that Wagner's/Sticklers could be my problem? Thank you very much for your reply. View Answer		2007-05-07


	I am a 38 yr. old female that was born with a cleft palate and lip. In 1988, I was diagnosed with tinitus and 60% conductive hearing loss. I was diagnosed with mitral valve prolapse during a stay at the hospital for a spontaneous collapsed lung. I have had 7 collapsed lungs in the past, both sides, and have had the blebs stapled and the lung lining scraped. I was diagnosed with WPW during a check-up for a hysterectomy due to endometritis in 2003. In 2006 I was diagnosed with a tumor in the right lung after going to the chiropractor for back pain. I have mild arthritis in my shoulders and hips and scoliosis. The tumor was removed, stage III, along with part of the diaphragm. I was diagnosed with Raynaud's Phenomenon sometime in 1996. My height is 5'8" and my usual weight is around 110. I have long fingers but my facial structure is not flattened nor the bridge of my nose. Five of the collapsed lungs where spontaneous in 1987-1989. The other two after surgery for the removal of the tumor. I've had 3 tachycardia with a heart rate of 230 each time. I've had 4 pregnancies with 2 live births and 2 miscarriages. I was wondering if I fit the "clinical" stage of Stickler Syndrome and is this something I should pursue genetically? View Answer		2007-05-03


	My 3 out of 4 sons have shown symtoms of Alport Syndrome. My oldest who is nine, now has mild hearing loss. Is it possible all 4 have it? How do you go about Genetic testing? I have blood and protein in my urin, and so does my husband. Both of us have family members (men) who have mild blood in their urin, but have never been treated for it. View Answer		2007-05-02


	My question concerns the heritability of Prader-Willi syndrome. My husband's maternal uncle had Prader-Willi syndrome, and I read on your website that, although unusual, "it is possible for a genetic defect that abnormally inactivates genes on the paternal chromosome 15 to be passed from one generation to the next. " If I become pregnant, would my child be at greater risk for Prader-Willi syndrome? Would the risk be great enough to justify genetic testing (I am not in an age-range where amniocentesis would normally be done)? View Answer		2007-05-01


	I have a 22 month old son who was diagnosed with Sotos Syndrome.... In doing my research, what types of Heart defects would a child with Sotos Syndrome develop? My Dr. has recommended that we see a Cardiologist b/c they believe he might have a blockage in one of his valves. We have an appt scheduled but i would like to know what types of heart defects would come with sotos syndrome? Please help. Thank you View Answer		2007-04-30


	HI - i wanted to ask if you know of any good links on the internet where i can find detailed articles of people or teenagers who have williams syndrome and why they are good at music. View Answer		2007-04-29


	Wha ways can a person over come Williams Syndrom? View Answer		2007-04-24


	We have been told that our daughter 'most likely' has a mild form of Cardio Facio Cutaneous syndrome. The geneticist said that a research facility looking at her DNA has found a gene sequence anomaly near by the problem genes already attributed in confirmed cases to CFC syndrome. This together with her appearance and developmental delay and the fact that they were looking in this area for a problem (& found one) leads them to suggest that the diagnosis is 'most likely' outcome. How likely? Can you help clarify? View Answer		2007-04-18


	Dear Geneticist, My husband, an Akha man (SE Asian indigenous person) most probably has Waardenburg syndrome. He has one blue eye and one brown eye. He has white hair (it turned when he was about 13 or 14) and moderate hearing loss in one ear and is deaf in the other. He has not been tested. As far as we know, no one else in his family has any of the Waardenburg traits. There are no outward signs in his paternal family, but we do not know much about his maternal lineage. If, indeed, he does have Waardenburg's, and it was a de novo mutation that caused it, will it still carry as a dominant trait in our offspring? We are trying to get pregnant and I would like to know if I should worry about deafness in our children. View Answer		2007-04-13


	A developmental pediatrician wants us to get our 2 year old tested for rett syndrome.She does have some symptoms but does not have the sleep problems,seizures,choking,breathing,or the shaky torso.Her symptoms include speech delay,hand clapping,strange arm movements,cognetive delay,late walking,and still an awkward gait.Does this mean she could still have rett syndrome and the other symptoms have just not revealed themselves yet, And if so at what age would we see them? View Answer		2007-04-12


	I am the half brother of a girl with Smith Lemli Opitz Syndrome. Is there a test I could do to see if I have the gene to know if I could pass it on? View Answer		2007-04-12


	Hi,My family has a history of Kaulman(could be spelled wrong) Syndrome. In our family it is known that it effects the men and is carried on the female gene. No known symptoms have been seen in women with the exception of one aunt without the ability to smell. The effected men have infertility and fail to go through puberty. In earlier generations the effected men had some outward physical symptoms although later generations (the men that are in there 50's now) have been treated with hormones and show no obvious outward signs. Two of the men of this generation have had treatment and succesfully had there own biological children.My mother had one brother with the syndrome and then had three girls of her own. It is not known if I am a carrier due to that fact. I have male cousins but everyone is very hush hush as you can imagine. My husband and I are ready to have our own children and he is concerned about our children having this condition. I have been told that the only way to test myself for the gene would be to have an aflicted family member give blood to isolate it first. This is probably unlikely. What would be the treatment for a male child if I were a carrier and passed it on? I know the symptoms vary greatly but they have been fairly consistant in our family. Could our child just wear a hormone patch at the time of puberty and then develope normally?What is the latest treatment? I need to put my husband at ease. View Answer		2007-04-09


	Hello,I am getting married in October and would like to have testing to find out whether I am a carrier for CHARGE. I have one child from a previous marriage with the syndrome. I recognize that the risk of recurrence is only 1-2%, unless you are a ?carrier? -- in which case the risk is 50%. That is the testing I would like to have done. Is it possible? View Answer		2007-04-06


	If my son has Noonan Syndrome and has had one central cell granuloma removed and has now been told he has another one on the other side, will this be an ongoing thing for him? View Answer		2007-04-04


	My grandson age 2 has mild treacher collins syndrome and is not speaking yet. Is language dealy charectiristic of syndrome. View Answer		2007-04-04


	I am a post graduate student. we have a TCS patient with haemoptysis and bronchiectasis. are these common for patients with TCS? View Answer		2007-03-28


	In 1995 i had a baby which died two days after birth, he was diagnosed with smith lemli opitz syndrome. i have just discovered taht i am pregnant with my partner who is not the father of my first deceased child. please can you tell me the likelihood of this baby having the same syndrome. i am three weeks pregnant and do not wish to go through with the pregnancy if the same thing is to happen again. View Answer		2007-03-28


	My son was diagnosed w/ waardenburg syndrome type 2 @ 4mnths. He has been on miralax everyday since 4 mnths when I switched from breastmilk to formula. My husband and I think our son may have the hirshprung's disease; but our son's ped thinks he is holding it in because scared of the pain when he first became impacted. Is there any other intestinal disorders that can be linked to waardenburg's syndrome? View Answer		2007-03-27


	My 7 weeks old son was born with Cleft palate. He was later diagnosised with Pierre Robin sequece, due to his smaller chin(although he doesn't have any breathing problems). Since 30-40% kids with Pierre Robin has sticklers syndrome. We saw an opthomologist few days ago to get his eyes checked for sticklers. The opthomologist did an examination on his eye and found that while normal newborns usually are more far-sighted, my son seems to have a mild case of near-sighthness (myopia)( his stats are -1.5 +1x for both eyes). However she did not make a firm diagnosis at this point and said that this may or may not be an indication on stickler syndrome, mainly b/c first of all his myopia is mild and secondly in the first few months of a life eyes undergo a lot of changes. So we have been asked to have his eyes checked again in 6 months. His doctors don't find any other facial or physcial stickler's features in him other than ofcourse his cleft palate, and he did pass the newborn hearing test at birth.We don't have any case or symptons of sticklers in our family.Only I wear glasses for nearsightness(my stats are -4.25 for both eyes).So my question is, what does your experience and knowledge say about the diagnosis???Is my son a strong candidate for sticklers?? even though he doesn't have any apparent facial features of eyes, nose and cheeks and no family history?? View Answer		2007-03-25


	I have a child diagnosed with Riegers Syndrome but there are particular characteristics that seem not to fit. She has the optical, dental, umbilical, and mid face characteristics. She also has anteriorly displaced anus, the bones on the back side of her pelvis are raised instead of indented, her heart valve (not sure which) if I remember correctly, pumps the opposite direction as normal, she is very intelligent, is 11 yrs. with one eyes pressure rising even with Medical intervention since infancy. Is there any syndrome that has all of these? If so, what is the prognosis? (Both parents where tested and we were told that her syndrome was NOT inherited, that it was a spontaneous happening in her) View Answer		2007-03-22


	Hi there,My brother had a baby girl in early 2004. Through the pregnancy they tested for gentic disorders etc. and were told she was 100% healthy. At birth, it was determined that she displayed characterisitics of Cornelia de Lange Syndrome. She had limb anomalies, upturned nose, arched brows, displayed hursuitism and cleft palate. She also suffered from reflux quite badly. I am now pregnant and as a new mother I am concerned about the chances of this happening to my fiance and I. With no known case of this syndrome previously, what are the odds of this happening and how does it happen? View Answer		2007-03-19


	My son has hair that is typical of Menkes kinky hair syndrome. However, he is almost 13 months old and he is healthy except that he gets ear and chest infections that he has trouble getting rid of. His doctor wants to test his for this disorder, but what are the odds that he actually has it? View Answer		2007-03-12


	I am writing about a teenager with Smith Lemli Opitz Syndrome, who has always cried anxiously when she has a doctor's appointment. As she has gotten older, she often cries unexplainably at home. She is nonverbal, and it is increasingly difficult for her parents to figure out what is bothering her. My question is, are there any identified psychiatric/emotional conditions in older SLO Syndrome patients which could be contributing to my patient's distress? View Answer		2007-03-08


	What is the age of the olderst living person w/ Lesch-Nyhan Syndrome?? View Answer		2007-03-07


	I'm a student of biomedical sciences, and we did a 4-week-project about the Holt-Oram syndrome....But we really wondered how much patients there are at the moment? We know the prevalence is 1 at 100 000 newborns...And what are the consequences for these pati?nts? Will they lead a normal life? Are there any changes in life expectancy? View Answer		2007-03-06


	I just adopted a little girl who is 3.3 yrs old. I just found out that her brother has smith-magenis syndrome and that her biological mother, who's IQ is 69, was born of incest. Although most of what I have read about this disorder says that it is not familial, I see a vast majority of the characteristics of the syndrome in my daughter. she has just gotten tested for an IEP and was found to have significant delays acroos the board. The bio-mom refused to be tested for the son. I am going to get her in for a genetic eval to r/o smith-magenis. if it is that, would mom being tested be beneficial to our daughter's treatment? View Answer		2007-03-03


	What are the long term effects of Sotos and how limiting is it for an adult as far as providing a living for themselves and being able to live alone? We have recently begin to foster a 37 year old woman who called our church in need of support. She has been verbally abused for much of her life. This life has truly damaged her emotionally. When we first met her, she was holding a part-time job but is now so emotionally drained that she can't continue. She is very dear to us. We want to help but don't know what she is or isn't capable of acheiveing and don't want to humuliate her by asking her embarassing questions. It is extremely difficult for her to talk about her problems yet she wants us to understand them. Can you help? She is at the point of having no hopes or dreams and is so downtrodden. We are very concerned for her welfare yet she refuses to see a Dr. Do individuals with Sotos qualify for assistance for living of any kind? Am not sure where to even begin to look. View Answer		2007-02-28


	Both of my childern and all of my grandchildern have Sticklers Syndrome is it possable for me to have the Sticklers gene but not be a carrier. View Answer		2007-02-21


	I have a 6 month old daughter with Prader Willi syndrome. PWS by deletion has been ruled out in a FISH test. My husband and I have opted not to have further genetic testing done to determine PWS by UPD or imprinting mechanism however I am concerned for my sister in law who has been trying to conceive for 5 years.I understand if my daughter has PWS by imprinting mechanism, it is likely that my sister in law may have a child with Angelmans.Can you please advise me if there is a test she can have prior to pregnancy, to determine if she has an imprinting mechanism that may affect any children she has? View Answer		2007-02-21


	I have Holt-Oram Syndrome with both skeletal and cardio defects. I am concerned about passing my HOS onto my children, as me and my partner are considering starting a family. Neither of my parents or family have the symptoms relating to HOS. There are no symptoms of HOS in my partners family either. We are wanting to know, or have an idea on what options there are for us starting a healthy family which will not be affected by HOS. Is there any way to ensure that I do not pass this Syndrome onto my children. What are our options? View Answer		2007-02-09


	Both my boys, who are 15 and 19, were recently diagnosed with the HPRT Enzyme Deficiency. They do not have the classic form of Lesch Nyhan Syndrome but are Lesch Nyhan Variants. Both boys were born with orange cyrstals in their diapers and continued for years up until today. I was told back then that it was concentrated urine and they needed to drink more fluids. My older son developed gout this past Sept. 06 followed by a 3 day hospital stay for multipe kidney stones. He is also delayed neurologically (Gross and fine motor skills), learning disabilities, had urinary tract infection, resembled celebral palsy when he was young, constantly chews his tongue. My younger boy has the overproduction of uric acid also and slight neurological problems (fine motor skills), and severe learning disabilities. He does not have the problems that my older son has. He is in the 9th grade and failiing. They are both on allopurinol. My questions to you are: Being that they are LNV and not LNS, can you give me any insight as to what to expect over a long period of time for my 2 boys? Is there any hope for advancement mentally through their mid 20's and 30's? Are there any adverse affects to the allopurinol being that they are starting so young? I should tell you that the endocronologist has never had this experience with youngs boys before. This is his first case. They are monitored every month with blood tests and 24 hour urine collections. I am trying to research and talk to as many professionals as I can to help my children succeed and to help them find a place in society. Thank you for your time and I hope to hear from you soon. View Answer		2007-01-31


	hi i am wanting to know if a subtelomere screen will show if a child has williams syndrome? they just keep doing test after test on my son because they think something is wrong with him but they do not know what. i think he has all the symtoms of williams except he has no heart or kidney problems that we know of. and i just want to know if this subtelomere screen will show if he has this. i have done alot of research on williams. the nurse was not sure and the doctor did not go over the tests he ordered and what they were for. he does not go back until 2-20-07 so this is a long wait. thank you View Answer		2007-01-31


	I am considering adopting a child with an extra toe on one foot. Is it possible to determine Greig syndrome from photographs? The baby is almost 3 months old. I have received recent pictures of her. It does not appear that she has wide spaced eyes or high forehead. This is a foreign born child so I am not able to take her to a specialist. View Answer		2007-01-29


	what is the life expectancy of people with Apert Syndrome? View Answer		2007-01-17


	My son is 26 yrs. old and at 6 years old had spontaneous retinal detatchments in both eyes. He had operations in both eyes leaving him with eysight in only one eye.He was diagnosed as having wagner stickler syndrome but it really was never confirmed. He is now going to be getting married, should he see a doctor for genetic counseling or do they have tests to actually confirm this disorder if for sure he has it. Testing was never really discussed with us at the time, maybe they did not have it 20 years ago. If testing or a doctor is availabe in my area could you recommend some. Thank you View Answer		2007-01-14


	My granddaughter was born with Rubenstein Taybi Syndrome. She is currently 18 months old. She has excessive hair on her head as well as her body. She also has hair on her pubic area.Her pediatrician doesn't know if the hair growth on her pubic area is symtomatic of the RTS or if she has a hormonal imbalance that needs to be treated. Would you be able to answer this question? Is pubic hair on a 18 month old female symptomatic of RTS or is it a hormonal imbalance and if so, what treatment/s are indicated? View Answer		2007-01-13


	I was wondering if there is a way, through invitro or other, that an adult with treachers collins syndrome can have children with their spouse, that would not be born with TCS. I have heard that this can be done, but not sure how. Also, can two parents, both with TCS, be guranteed a healthy child through this invitro or other source? View Answer		2007-01-12


	my husband's brother and wife have a baby with angelman syndrome. i am pregnant and i'm not sure if we need genetic couseling. we have 2 healthy children at home. we are not sure of the results of their genetic testing. i had a level 2 ultra sound done and it was normal. wha t are the chances of my child having angelman syndrome? View Answer		2007-01-12


	hello, i am doing a report on angelman syndrome for my science class and i have a few questions. my first question is what type of mutation occurs in and where in angelman syndrome? what are some of the risk factors? what kind of tests do you take to diagnose for AS? and what is the estimated lifespan of a person with the disorder? please help me answer some of these questions, thank you very much View Answer		2007-01-10


	I was waundering If there were any cure for the diesease. If not, what treatment procedures do the familys have to go through to make the person with Rett Syndrom stay alive or as comfortable as possible? View Answer		2007-01-09


	My son suffers from Jackson-Weiss Syndrome. My question is does this sydrome affect his height and weight? He is 5 yr. old but only weighs 35lbs. and is a little over 3ft. tall. His twin brother is 54lbs and a full head taller. Thank you for your help. View Answer		2007-01-06


	My son is now 2 years of age and we have been trying to find what is exactly wrong with him. Right now he is diagnosed with severe FTT. He just turned 2 years old and is still only 17 pounds. He has a asd and slightly large right atrium. He has the intermitten extropia and is hypertonic in some ways and hypertonic in others. He has a prominent "hip click" and a very strong smelling urine. He is developmentally delayed and is currently going through speech, OT, and physical therapy. We have been to 2 different genetics doctors and they all seem to think it is definately something genetic and along a metabolic disorder or syndrome. My grandmother seen a show with Costello Syndrome and I think it may be possible. Are there degrees of Costello syndrome? Because his characteristics are not that extreme, but I do see some similarities. Can you think of any other possibilities for us to searh for. He was tested for MPS and although his test was abnormal they didn't think it was abnormal enough. I'm just getting frustrated trying to find anyone who could tell me something. Thank you in advance! View Answer		2007-01-04


	At age 15, I was officially diagnosed with a rare (1 in 10,000 male births) genetic (some sporadic cases with no family history) called Kallman Syndrome (KS), or Hypogonadotopic hypogonadism, which causes chronic testosterone deficiency. I have been undergoing hormone replacement treatment for it with depo-testosterone injections (some intermittent periods of Androgel use) for over 12 years now. I have basically progressed through puberty during this time with some secondary sexual characteristics being less developed than others (cannot grow full beard). I am engaged now and my fianc?, who has been fully aware of my condition and the ramifications of it even before we started dating, are now looking ahead at the possibility of becoming pregnant one day. Although we are not getting married till May of this year, I wanted to start inquiring about the likelihood of transmitting KS to our offspring. It should be noted that both my oldest sister and myself have a reduced sense of smell--anosmia in her case and hyposmia in mine--and I am told that my paternal grandfather had anosmia as well. While my father progressed through puberty normally, he was somewhat delayed in hair growth and was not able to begin growing a substantial beard until he was 24 or 25 years of age. I should also note that I was born with a cleft palate (with no cleft lip) that was successfully corrected a few months after birth. While I am fully aware of the good chance for pregnancy after fertility treatment (GnRH pump, hCG/hMG/FSH/LH injections), my fianc? and I would not want to proceed without a comprehensive explanation of the available research on the probably genetic mechanisms and likelihood through each of passing on any degree of the symptoms associated with KS. In short, what is the risk involved in trying to get pregnant, when not only having this rare condition, but aspects of it within my immediate family? View Answer		2006-12-28


	I would like to ask which medical centers in Europe or USA do genetic diagnosis of Treacher Collins Syndrome View Answer		2006-12-28


	is there any way genetcially to prevent waardenburgs symdrome from being passed on to offspring because i for instance with taysachs if both partners have it you can do something to prevent a child from receiving it i was curious if the same applies here by waardenburgs? View Answer		2006-12-17


	Hello,My 26mo. old son was diagnosed with RTS in June of this year at the NIH. I am not qite sure I agree with this diagnosis as he is catching up with his peers as far as speech and physical abilities. He is small for his age but proportianate. He is 17 and a half pounds and 29 inches tall. One of the main charachteristics that was sited was talon cusps for this diagnosis. My son has these in his 2 front teeth. They are his baby teeth and they came in that way. I have looked everywhere to find out if this happens with RTS and Baby teeth but all I see is adult teeth with talon cusps. My son also does not seem to have the broad thumbs but his great toes are a little broad but don't look abnormal. The older he gets the more he is looking different from the other kids I have seen with this syndrome. Our Genetasist here also thinks they might be wrong and we took him to an Endo to get his growth evaluated and they took x-rays of his pelvis and hands and they came back stating there were no anomolies consistant with RTS. My son also has a small foramen magnum and in RTS there is a large 1 normally. He is showing signs of a curve in his spine and some odd chest wall assematry. We have had him tested for several things as he has several features ( epicanthial folds, low nasal bridge, small mouth, high arched palate, spit uvulla, teeth came in with bad enamal, born with LOTs of hair, failure to thrive after birth). I am leaning twords some obscure form of short stature with normal intelligence. What are your thoughts on all this? I would really like to know about the teeth if possible. Thanks so much. View Answer		2006-12-13


	Is the disease of Coffin-Lowry Syndrome chromosomal abnormality? View Answer		2006-12-10


	Do carriers and people affected with Alstrom syndrome look like normal people? View Answer		2006-12-06


	Hello and thank you for taking the time to answer my questions. I have a 1 year old that was diagnosed at birth with a hearing loss in one ear. Just recently we discovered Waardenburg Syndrome. I feel very strongly that this is what has caused her hearing loss. As we can now trace the symptoms back 6 generations and have a totally of 9 family members affected by it (8 of which are still alive): Great-Great-Great Grandma~ White forelock and loss of hearing; Great- Grandma~ loss of hearing, wide set, small eyes (very blue), Early graying; Grandpa~ Blue eye/brown eye, Hearing loss, early graying, wide set, small eyes, uni-brow; All three of his children are affected with it to some degree as well as his other grandchildren; My husband/Dad~ Blue Eye/Brown Eye, early graying, uni-brow, wide set, smaller eyes, and I believe he also has the raised shoulder blades; 1st daughter (5) ~ Varying eye color, wide set eyes; I do not believe my middle daughter is affected; 3rd daughter (1) ~ Vivid blue eyes, white forelock, hearing loss, uni-brow, wide set eyes. Everything that I have read and looked into describes my husband and our family perfectly. Is a blood test really necessary when the traits run so strongly in the family? Is it possible to diagnose Waardenburg's Syndrome without having to have genetic testing done? View Answer		2006-12-04


	WHILE READING AN ARTICLE ON SLOS I FOUND MUCH OF WHAT I WAS READING WAS THE EXACT SAME CONTITIONS MY 10 YEAR OLD SON HAS. (GIVE OR TAKE ALITTLE) HOW DO I KNOW FOR SURE IF MY SON HAS SLOS? WHAT TESTS ARE DONETO FIND OUT? HE IS SEEN BY A GENETICIST AT CHILDREN'S HOSPITAL OF ORANGE COUNTY IN THE CITY OF ORANGE, CALIFORNIA WHERE HE IS SEEN BY MANY DIFFERENT SPECIALIST. View Answer		2006-12-03


	Hello, My sister had a baby with Menkes disease. Could I be a carrier of the disease? Is there any chance that may child could be affected in any way? Could my child end up being a carrier? View Answer		2006-12-01


	My son is 10, and tentatively diagnosed as having Sotos several years ago. He had petit mal seizures as an infant and toddler, but they were not treated since they only presented as a lapse of attention for less than a minute, did not affect his development or responsiveness otherwise, and stopped by the time he was three. But last week he suddenly had a grand mal seizure, and now I'm being made aware that seizures are common for some Sotos kids, and even epilepsy.His tests have all been unremarkable, but I'd like to know what the chances are that this was a one-time deal, or a new on-going situation. View Answer		2006-11-29


	Hi, My twin sister has long been diagnosed with a variant of Riley-Day syndrome in India. I would like to know if there is any research or any recent developments in this field which will alleviate her problems. View Answer		2006-11-28


	My husband has Ellis-Van Creveld Syndrome. To my knowledge the disease does not run in my family. What would be the chances of us having a child that would positively have the disease? What would we need to do to find out? View Answer		2006-11-28


	Hi !Okay, are we ready for a real workout on those medical muscles ? I have the following syndrome. I have a cleft palate, a lateral synachae (right side), tongue tie, and blindness(right side only) due to poor pre-birth development. My face is apparently typical of this syndrome with a small 'beaky' nose, small mouth, and high cheekbones. No member of my family have any of these problems. I have been told however, it is a very rare genetic syndrome. It is called (AMAZINGLY) Cleft Palate with Lateral Synachae. Can any of you give me any information on anything to do with this syndrome ? View Answer		2006-11-20


	I work with a girl who has RTS. I was wondering if there are things I should try to accomplish with her or not? She does not speak. She has a very short attention span. I work with her daily. On Mondays we have a music class, she hates it. Wednesdays we bowl. I have yet to find something that entertains her or makes her happy. I really want to help her acheive some goals in her life that she and her parents can be proud of. Sincerely, SE View Answer		2006-11-20


	What is the life expectancy of a person with cornelia de lange syndrome? View Answer		2006-11-20


	I have a girlfriend with williams syndrome and i want to be able to help her through it if possible could you send me anything that can help? View Answer		2006-11-16


	What is my life expectancy with the apert syndrome? View Answer		2006-11-13


	I was diagnosed with Rokitansky Kuster Huaser Syndrome at 19. I am now almost 50 and am still finding out about physical deformities I have. Do you have any information on this condition, and would it be worth my while to come there to be evaluated? Thank you for any help you can give me. View Answer		2006-11-11


	Can a child have Down Syndrome and Prader-Willi Syndrome? View Answer		2006-11-01


	Hello,I am currently dating a man whose father has Holt-Oram Syndrome. His left arm and hand are affected. He has four boys. My boyfriend, the oldest, is not affected. The other three sons are affected with varying degrees of the syndrome.My question is whether it is possible for my boyfriend to pass this syndrome to his future children eventhough he, himself is not affected. I've read that this is an autosomal dominant disorder and that people who are affected with Holt Oram have a 50% chance of passing it on to their children. What is the likelihood that he could pass the syndrome on? Is he a carrier of the gene? View Answer		2006-10-29


	I am a high school student and am doing a research project in my advanced biology class on Progeria. My question is what is the best way to find out the following information. What chromosome is affected? What are the symptoms and treatments? What are the best web sites that are easy to understand? I may have more questions later. Thank you for your help. View Answer		2006-10-20


	My mother and only sibling (female) have Waardenberg Syndrome. Both are Deaf. My mother has two different coloured eyes and my sister has very blue eyes - wide apart. My father had meningitis at 2 years of age and became profoudly deaf. I do not have any of the characterisitcs. I have two children neither has Waardenberg. Could they still carry the gene and could this result in them having offspring with the syndrome? View Answer		2006-10-17


	My mother (deceased) had Holt-Oram Syndrome and so did her sister and her mother. I am thinking of becoming pregnant and after watching my mother's sister go through many problems with the birth of her child who also has HOS, I want to make sure I do not have it in even the mildest form. I have heard a simple x-ray can be done on my wrists to see if there is a malformation there to determine a HOS diagnosis. Is this true? or Could I be genetically tested for this? I want to know whether or not I have any chance of passing it on to any children I will have in the future. Thank you! View Answer		2006-10-16


	what is the possibility of somone passing the coffin-lowry syndrome to their offspring. View Answer		2006-10-16


	I am a family member, a carrier, and a mother of a child with Alports. My daughter is 16 and is beginning to loose some of the function of her kidneys. Her creatnine level is 1.9. My question is two-fold. How quickly does the kidney begin to function at a level of concern? I am 40 years old and have expierenced hematuria in the urine and often have back flank pain in the kidney area. My mother and three brothers have all had transplants. Should I expect the same. I have been told new studies indicate I should begin to experience loss of function. View Answer		2006-10-13


	My nine year old son was diagnosed with Stickler's Syndrome shortly after birth. His father has it, grandfather and many great uncles. My son was seen for his annual checkup and his pediatrician was concerned about his height (or lack of it). A bone age scan was done that confirmed his bone age at 9 years and 1 month. His height age is 7 years and 3 months. His father is only 5'2" and has scoliosis. I am his mother and I am 5'5". The pediatrician wants to send my son to a pediatric endocrinologist, but he asked me if short stature was a part of Stickler's Syndrome. After looking through a number of web sites, some say yes, some say no. What is your opinion? View Answer		2006-10-11


	I was recently told that my son has a combination of Ehlers-Danlos syndrom and Sotos syndrome. The geneticist said that at this time the tests for diagnosing Sotos were approximately 80% accurate and that a diagnosis wouldn't change the way we were treating my son. I agreed to wait on the testing until it was closer to 100% accurate. However, I was told today that it's closer to 93% today and that the other 7% are classified as Sotos-like. This person was not a doctor but claimed to have been at a couple of conferences with specialists. Which is correct? Should we go ahead with the testing process now? or wait a little longer? View Answer		2006-10-06


	My father's doctor sometimes mentions Stickler Syndrome as Wagners Stickler Syndrome. What is the relationship between Wagners disease and Stickler Syndrome? View Answer		2006-10-06


	How many year a child with coffin-lowry can survive? View Answer		2006-10-05


	Is there a gene change or mutation that can be found to indicate Opitz Syndrome. View Answer		2006-09-29


	Hello, i am doing research on Hutchinson - Gilford Progeria Syndrome and i have a couple of questions. During my research so far, i haven't found much information on the effects this syndrome has on the immune system. And secondly, are there any ways that could help increase the lifespan of a carrier? Could you please provide me with some websites that would answer my questions. thank you View Answer		2006-09-25


	My daughter went to see a neurologist back in May(she was born in April). He ordered chromosome testing and this week we found out the results showed nothing abnormal. She has all of facial characteristics of cdls along with the feeding issues and growth issues(she experienced intrauterine growth retardation and was born a week early weighing 4 lbs and at 5 months has just reached 9.5 lbs). Does the results of the tests mean that she does not have cdls or is it diagnosed in a different way? I'm confused right now. Even thought the test showed nothing we still have to have a follow up with the neurologist and he is going to refer us to a genetisist. Is cdls still a possibilty? View Answer		2006-09-22


	Our daughter has tested positive for Long QT Syndrome using genetics testing. We have no history in our families. When we asked how many other people in the world have also tested positive for her specific mutation, the answer was 1. How reliable is a positive test result in this setting? Shouldn't there be more people tested before we say a person "definitely" has a syndrome based on one other person in the entire world with the same mutation? Our daughter is three years old and facing an ICD implantation. We want to treat her if she has the syndrome, but definitely want to be sure she has the syndrome first. Thank you for your time. View Answer		2006-09-21


	My son is extremely large for his age and is having some problems in school. He is in first grade and is approximately 4' 10". His grades are ok, but he has trouble paying attention and staying on task. After doing some research, I think he may possibly have Sotos syndrome. He displays many of the characteristics, both physical and mental, associated with the condition. Is there currently any way to know for sure that he does or does not have Sotos? View Answer		2006-09-20


	I have heard of a recently discovered stomach disorder that is common to PWS and frequently misdiagnosed and can become life threatening. Do you have details re diagmosis and treatment please? View Answer		2006-09-17


	My sister was diagnosed with Alports Syndrome when she was 7 and now at the age of 32 is in stage 3 RF and is 80% deaf. There is no history of Alports in any other family members. I have two children, a daughter age 9 and a son age 5. There has not been any genetic testing done in our family but I am worried for their health. My sons nephralogist (for an unrelated kidney disorder) says that as I don't have Alports there is no possibility he has, although he has developed a mild hearing loss which has been put down to glue ear. I would like to now if we should have genetic tests as I have read that people can be carriers of Alports and if so I am concerned there is every chance that I and/or my children could be affected. View Answer		2006-09-15


	My mother gave birth to 10 children. 7 males and 3 females, 4 of the seven males have been diagnosed and treated and have all died from LNS (leish-nyhan Syndrome). Is it possible for me as the oldest male to have some of the same symptoms as my younger brothers but not have the full Disease. I suffer from painful joints and have experienced gout in both my feet and knees. My lower leg joints stay swollen for long periods of time. Also, I experience pain in my hands elbows and shoulders. Is there a test I should request of my doctor? View Answer		2006-09-06


	My brother was born with a genetic disorder called Crouzon's syndrome. I was wondering what my chances would be of also having a child with Crouzon's Syndrome. View Answer		2006-09-02


	My son's geneticist has told us that he has Opitz. He thinks my mother and I have it as well. Do you think there will be any developments in the near future that would allow us to work with a fertility doctor to determine embryos that have the gene for Opitz, therefore allowing us to have more children? View Answer		2006-08-26


	I am currently working with a 21 year old male with Rubenstein-Taybi syndrome. He is one of the coolest kids I have had the pleasure of knowing. My concern is that he consumes 100% of all meals plus seconds plus a 206 supplemental shake at each meal but he is steadily losing weight. Are there current weight/height charts specific to kids with this condition? View Answer		2006-08-12


	My Step Daughter is 1 1/2 months pregnant. She has Holt Orum Syndrome affecting both arms, as does her father and the grandmother. Other relatives such as the great mother have had minor deformities of the arms or hands. None have had heart problems. Question - is there any prenatal gene therapy available to help if the child is found to have Holt Orum? View Answer		2006-08-11


	I am dating a 27 yr old that has been diagonosed with Soto Syndrome when he was a baby. My question is this, he is slower then most but has a normal IQ, but I sense that his mentality is that of a teenager. He lies and does things and then when he gets caught in these lies he says he does not know why he does them. I am frustrated about this because I don't know if it is from the syndrome or if he knows exactly what he is doing. He holds a job as a custodian and drives a vehicle, but he does not live on his own. He lives with his parents and his mom told me that she does not think he could ever live on his own. Please give me some input so that I can evaluate this situation and my expectations of having a somewhat normal relationship with this man. Thank you. View Answer		2006-07-27


	I HAD A BROTHER WHO DIED OF MENKES SYNDROME. I WAS TESTED AND AM NOT A CARRIER SO SAY THE RESULTS OF MY SKIN BX TEST. THERE IS A CHANCE DUE TO THE RANDOM INCIDENCE. I HAVE A HEALTHY SON AND DAUGHTER IS THERE ANY CHANCE MY DAUGHTER WILL BE A CARRIER AND NEED TO WORRY ABOUT HAVING POSSIBLY HAVING A CHILD WITH THE SYNDROME OR BEING A CARRIER?? OR DOES THE LINE END WITH ME SINCE THERES A GOOD CHANCE I AM NOT A CARRIER??? PLEASE HELP ME IF YOU CAN. View Answer		2006-07-24


	In 1972 my little brother was born with Cornelia de Lange Syndrome. He passed away in 1974. Besides having Cornelia de Lange Syndrome, he was also profoundly mentally handicapped and it was expected that he would not meet any major milestones or be able to learn any self help skills. I believe that all of his organs were reversed as well. All of the information that I have about this syndrome is about people with mild to moderate retardation. I have a letter from a doctor that states his syndrome was Typus Edinburghensis variety. I can not find any information about this and was wondering if you could give me more information about whether or not this explains his mental condition. My parents donated his body to science so I am hoping that this enabled doctors to learn more about his condition. Thank you. View Answer		2006-07-20


	My daughter's husband has a sister with Aperts Syndrome. If my daughter and her husband have children can this disease be passed to those children? What are the chances that future children will be affected with Aperts? View Answer		2006-07-20


	Good day, My brother suffers from Usher syndrom type 3 and i'm a carrier of this disease.I'm searching for any sort of treatment, even experimental, for my brother - who is 20 yr' and has impaired hearing and vision.I'd highly appreciate any assistance you might provide me with in my search. View Answer		2006-07-09


	My 5 week old daughter was just diagnosed with Smith-Magenis Syndrome after she had open heart surgery to repair a VSD and an ASD in her heart. My wife are very concerned and nervous since we do not know much about this rare condition. Is it possible for a person to be missing this region of chromosome 17 and not experience many side effects? We want to try to get the best possible treatment and therapy as early as possible since she is so young so we can eliminate or minimize any symptoms. Is there also any way to replace or insert this missing gene? We appreciate any info that you may have. Thank you. View Answer		2006-07-05


	What is the average life expectatcy for a child with smith maginis syndrome? what are the 3 stages of the disease? View Answer		2006-07-02


	My son is now 6 years old and has Angelman Syndrome. Pls help me to help him. He does not walk of talk. He is doing for 5 years now psysiotherapy, logotherapy, ergotherapy, music-therapy, hydrotherapy and goes to a normal preschool / kindergarden for 3 years not. He can walk only if we hold his hand/hands. He is getting better: understanding people around him and obeys some orders but ....... when is he going to walk? Talk? I will die. I cannot bare looking him missing everyday things an many many more.......Pls help me. Is there a way we can clono chromosome 15? Pls, dont let him miss all his childhood. View Answer		2006-06-29


	i was told that my one year old could have noonans syndrome how can i tell for sure if he does or not View Answer		2006-06-28


	Our grandson is showing symptoms of Tourette's Syndrome with a number of tics, e.g. blinking eyes and facial grimaces. He is almost 6 years old. At the age of 2 and 1/2 years he started stuttering and blinking. Both of these disappeared after a couple of months. His mother also had blinking eyes for a number of months at the age of 6 or 7 but no other symptoms. His mother's grandfather, ( my husband's father) had blinking eyes off and on his whole life. My husband has never had any signs of Tourette's. Is it possible the Tourette's gene was passed from my husband's father to him, then to my daughter and then to my grandson? My husband has a large family with uncles, aunts, and many cousins and we are not aware of anyone else with these problems. I should mention that my grandson had a very difficult birth with the umbilical cord wrapped around his shoulder and delivered by forceps. He also has allergies and asthma. However he appears to be over average in intelligence and has never shown any signs of ADHD or OCD as yet. View Answer		2006-06-21


	My boyfriend (age 36) has Alport Syndrome. What are the chances of our having a baby with this condition? He is one of five, his oldest brother has the disorder as well. My boyfriend has had two kidney transplants, both rejected. The oldest son had a transplant over 15 yrs. ago and is doing well! I understand from reading some articles that he cannot pass it on to a male child, is that true? View Answer		2006-06-09


	COULD YOU PLEASE HELP! I HAVE A SISTER AND BROTHER WITH ALPORTS. MY BROTHER HAD A TRANSPLANT BUT DIED AT 24. SISTER HAS HAD 2 TRANSPLANTS AND IS NOW IN END STAGE RENAL FAILURE. SHE HAD A SON WHO DID NOT HAVE ALPORTS.THEIR ARE 7 CHILDREN IN THE FAMILY WITH 4 DIFFERENT FATHERS. THE ONLY 2 CHILDREN (BRO & SIS) THAT HAVE THIS DISEASE ARE FROM THE SAME FATHER. IF MY MOTHER WAS THE CARRIER, WHY DIDN'T THE OTHER CHILDREN INHERIT THIS DISEASE? THIS CANNOT BE X LINKED SINCE FATHERS CANNOT PASS THIS TO THEIR SONS. SO HOW DID THEY INHERIT IT?? THE ONLY THING THAT MAKES SENSE TO ME IS THAT THE PATTERN OF INHERITANCE WAS AUTSOMAL RECESSIVE. IS THIS CORRECT? View Answer		2006-06-04


	I am 23 years old university student from Hungary. My dad has Gilbert-disease and I also have that. My blood tests showed its level is around 40 (between 3-11 is normal). I dont have any symptoms. Is it true that I am not allowed to drink alcohol? My GPD is also slightly higher, and my liver is a little bit bigger. View Answer		2006-06-01


	Are there any tumors, benign or malignant associated with the WEilliams Facies Syndrome? View Answer		2006-05-31


	Do peple with Apert Syndrome have shroter lifespans? If they get surgery, are they able to live a normall life? View Answer		2006-05-29


	My grand daughter,age 14mo, has been clinically diagnosed w/ Williams Syndrome. The FISH Test results are expected soon. What is the state of current reasearch and where is the best work being done on this syndrome? View Answer		2006-05-28


	My son has recently been referred to a geneticist because his physician believes he could have a genetic overgrowth syndrome. He was large at birth (10lbs 2 oz) and has always measured off the charts. My son turned 2 in March and weighs 51 lbs and is 39 inches tall. His head is also large, but proportionate to his body. I am 5' 6 1/2" and weigh 145. My husband is 5' 10" and weighs 195. My husband and his brother are the same size, his wife is approximately my height, they have a son 6' 5" and another 6"2". What can you tell me about over growth syndromes? How are they treated? What are major concerns? We know nothing at this point and cant see the geneticist until August. My son is also being sent for an MRI of his brain and ultrasound of abdomen to rule out any growths/tumors. He is developing normally and has reached all of his milestones on time. Other than looking like a big kid, he appears completely normal. View Answer		2006-05-25


	I was wondering with TRP syndrome is there anything specific I need to do or look for while I am raising my adopted daughter and their new sibling that is comoing in October? With the oldest child since we had her she seems to have been exceeding the normal limits of chidlren with TRP. She is two years old she can say her ABC's nd she can ready some books. I am just wondering what I can do to help them out as much as I can. But I also need to know if they have leg problems because her right foot in starting to turn in. Should I take her to a foot doctor or her regualr Ped for that! View Answer		2006-05-24


	I am the grandfather of a 16 year female that has been diagnosed with Smith Magenis Syndrome. She was diagnosed about 6 or 7 years ago. Major problems are the flipped sleep cycle and temper tantrums/self abuse. We have tried most of the new and old anti-psychotic drugs, anti depressants and other meds to flip the sleep cycle and help with tantrums. Question - any research on Bipolar medications like Lithium in treatment for these conditions? Her original diagnosis was Bipolar. She currently takes Depakote, Lexapro, Trazadone, Abilify, Clonidine, Lorazapam, Astelin, oral contraceptive, and Melatonin. View Answer		2006-05-22


	I have a son who has EVERY characteristic of Angelman Syndrome. 4 years ago, our neurologiest ran the genetic test which would dx. 79% of cases. (methylation specific PCR?) The report indicated that the 21% of patients not detected by this test could be caused from point mutations. "This neg. test eliminates the need for further chromosone testing. " also was found in the report. I'm very concerned now because I'm 7 months pregnant & I'm afraid I could have another child with AS. I've become overwhelmed with the genetic lingo. In 2002, it was recommended that we have the UBE3A test done, but it was so expensive we could not afford it. We weren't planning any future pregnacies either. Is that chromosone testing? Was the first report correct in saying no need for further chromosone testing? I'm driving myself mad. What is the % of having another "angel". Please be gentle. Please don't refer me to a genetic dr. I can't go through all of that right now. Thanks! View Answer		2006-05-19


	My sister and her baby have treacher-collins syndrome. Our parents do not appear to have any symptoms and I do not appear to have any symptoms, what are the chances that I could have it? It is an 'autosomal dominant' syndrome so if i do not have any syptoms does that mean i do not have it? If I do not have it, but it runs in my family, do I have a higher chance of having a child with treacher-collins? View Answer		2006-05-19


	is angelman syndrome fatal? View Answer		2006-05-16


	I have astudent who was diagnosed with BORJESON-FORSSMAN-LEHMANN- SYNDROME;BFLS, is this a life threatening disease? Are there any genetic tests that can conclusively determine this syndrome or is it a list of characteristics? Where can I fingd more information on this disease? View Answer		2006-05-15


	My son was clinically diagnosed with Rubinstein-Taybi Syndrome (RTS). The results of the FISH test was negative but I understand it only catches about 11% of those with the condition. There are research-based genetic tests which can provide confirmation in 30-50% of the cases, however it is my understanding that I may not be able to receive the results to this test. Is this true? In other words, am I correct in understanding that research-based studies cannot share the results with the participant? Separately, can you direct me to persons who are leading the research effort in Rubinstein-Taybi so that I can stay on top of their findings? View Answer		2006-05-12


	I was curious to know what nursing interventions a nurse would use to provide a family with a member who has Progeria. Are there any specific techniques that a nurse would provide a family to utilize? View Answer		2006-05-11


	I have Treacher Collins Syndrome. Me and My wife are expecting, currently 16 weeks and I would like to know more about what are the probability factors for our baby to be born with TCS.No one except myself in my family has TCS. Im one of 3 children. Unfortunatly due to my wife having HYPERMESIS, we have been unable to see a genetics counselor so I greatly appreciate any info you can offer. Also, we did have a Medical Translucency exam done and the results were good. View Answer		2006-05-10


	Hello, I have a two and half year old son with Noonan Syndrome. I am trying to find detailed information regarding dental problems. I have found informaiton about small bottom jaws and have seen on the support group website how they can be prone to badly crooked teeth. I would like to know if there is anything else I should know in this area such as brittle teeth. I have so far not been concerned for my son in this area as his teeth are perfectly straight of normal size and bright white. Although two days ago half of one of his molar teeth came away which now has a hole in the centre right up to the top. Also if there is a condition matching this with Noonan Syndrome, is there anything I can do to help aleviate this problem in the future... Thank you View Answer		2006-05-05


	Can children with Hutchinson-Gilford Progeria Syndrome live "normal" lives? View Answer		2006-05-04


	Can you tell me the educational effects that Noonan Syndrome has on a childrens learning ability? Thanks for you time. Michele View Answer		2006-05-04


	To Whom It May Concern: After reading the characteristics for Waardenburg syndrome, I was excited to perhaps find an answer to my daughter's and my deafness that each of us has occur in only one ear. I have hazel eyes, my right eye sploched with brown, hers are hazel, but she was born with patches of very light blond hair in her darker blond hair. If this is our diagnosis, are there other symptoms that we need to watch out for? My deafness did not appear until my mid 40's (I'm 63), while hers was progressing in early childhood (she's 33). If my suspicions are correct, ours would be Type II, for our facial features are normal, and I realize our condition is relatively minor. My otolaryngologist had never been able to find a reason for my deafness appearing in only one ear, but I have almost completely lost all hearing on my right side. My daughter's loss is on her left side, and her loss is not as complete as mine, even tho it is progressive. No other ancestor seems to have had this particular loss. View Answer		2006-04-25


	What is the structure of the gene associated with HGPS? Does this gene have any relationships with other proteins? What interactions is the protein involved in? Most importantly, what is the molecular basis of the disease? View Answer		2006-04-22


	Recently a 9 year old family member was diagnosed with SMS. He is attending school at grade level, has some of the symptoms such as life-long sleep disorder, short fingers, hoarse voice. Our questions are: since he reads well above grade level and has little difficulty in school, could he have a "mild" form of the syndrome that even if he does not continue to develop intellectually, he would not recede from where he is now? What changes can we expect as he grows older, does the syndrome progress? View Answer		2006-04-20


	I have a sister and two nephews who have Waardenburg Syndrome. They all have they wide nose bridge and connecting eyebrow. My sister has the white forelock of hair and her oldest son is "prematurely greying" at age 13. Her youngest son also has two different colored eyes. I have none of these traits as listed above. I have three children whom do not have any of these traits. I have researched on line and I can only find the most common traits of WS, are there other traits that are not commonly mentioned. I think it odd that my sister and both of her children have WS while myself and none of my three children have WS. View Answer		2006-04-19


	My concern is regarding my 3 children, ages 22, 20 and 18,and their relation to opitz syndrome.My husband's sister, my children's aunt, has a child with opitz who is 8 years old. My husband's sister has never discussed a definite diagnosis. We were actually informed by a cousin. My children are the only 3 individuals effected by this data. My question is "what method to take in discovering the effect on my children and their children? What information should I look for? View Answer		2006-04-17


	Can a person with Williams Syndrome not have mental retardation or low IQ? My daughter has almost every one of the other symptoms but her IQ is above average and she was developmentally advanced; walked at 9 months, spoke in full sentences at 18 months. She is currently being diagnosed for Cushings Disease because of her history of growth problems and a recent, unexplained rapid, weight gain. View Answer		2006-04-12


	We have found out that our 10 year old daughter has AIS she has nothing but testies in her lower stomach. My question is this: how is she getting any girl hormones was going breasts or hair etc? Our doctor said she will getting some from the testies and that is why we should wait till after puperty, but how can she be getting enough to do anything? Is it right for us to put her on hormones this early. She has been watching all her peers growing and starting to wear bras etc and I think it has started to bother her that she has no develop anything yet. Also, how likely is her sister to have the same thing? Any advice would be helpful. View Answer		2006-04-10


	What is the % of the occurrence of Lesch-Nyhan in births? View Answer		2006-04-07


	Who discovered Treacher collins syndrome? Who gave treacher collins syndrome its name; also called Franceschetti-Zwahlen-Klein sndrome? View Answer		2006-04-07


	My daughter in law is 5-7 weeks pregnant. She has an older sibling and younger sibling who both have Angelman Syndrome. They both had different fathers. She is concerned that her mother could have passed the genetic defect on to her as a carrier, without her demonstrating the symptons? Also if she does not have carry the genetic defect, is it possible for her to still pass it on to her children? View Answer		2006-04-03


	I have Andersen-Tawil Syndrome. My brother was thought to have this also. I have a son that has a Dandy Walker Variant which we were told was probably genetic also. I know that Andersen's can cause multiple skeletel and heart defects as well as periodic paralysis. I was wondering if it could possibly cause a brain defect also like dandy walker variant or hyrdrocelphalus? On his brain MRI it states that it was possibly from a genetic defect in utero. Our DNA was sent to a researcher and the last I checked he had sent it to another lab as well. So it has been in a total of 3 research labs. They are not giving us any answers so far. We've been getting conflicting stories about the results and no one seems to want to tell us anything. View Answer		2006-04-01


	can crouzons be detected by amniocentesis? View Answer		2006-03-23


	My sister recently tested positive for some genetic polymorphisms which affect her liver, and which are the same genetic problems found in Gilbert's Syndrome, a hereditary disease which I've been investigating in myself. I have elevated bilirubin and many of the symptoms. My family also has a fair amount of cancer, heart disease, diabetes, and other genetic problems which I'd like to know about, both for my own knowledge, and since I am considering having children. Excuse my ignorance on the matter, but are there broad-reach genetic tests that can examine one's genetics for polymorphisms and carrier genes for anything and everything? Does it have to be more specific - testing only certain requested areas? What is involved in the test? It is a blood test? View Answer		2006-03-14


	Why are the features of blonde hair and blue eyes prominent in high numbers of individual's with Prader Willi Syndrome? View Answer		2006-03-13


	My brother, who has Treacher Collins Syndrome, has recently gone for geneti