Miscellaneous | Ask the Geneticist (SM)


	Question		Date



	I was born with multiple birth defects. I was a March of Dimes baby in the 1950's. I had severe hip hyperplasia, club foot, and ambiguous genitals that required extensive medical treatment. My mother told me that I was missing a pair of ribs. I am trying to follow up on her remarks about my ribs, and am interested in learning more about the genetic basis of missing a pair of ribs, and only having 11 pair. This is a serious question, and is unrelated to ideas of a "missing rib" in theology. View Answer		2009-11-05


	My son is now 30 yrs. old and was diagnosed with an adrenal admormality when he was 2 and was given cortisone shots every 3 days to help him to grow properly. This is such a rare condition that most Doc's have no idea how to treat it so they don't. Can you help him in telling him something homeopathic that he could do for himself that might give him the energy that he should have at 30 yrs of age. This is becoming a very serious problem and he could loose everything over it. Thank God this is a man with a wonderful sense of humor. I don't see how he keeps so strong. He is one of the nicest and smartest young men you could ever hope to meet. Please help him. View Answer		2009-10-24


	I was recently diagnosed with something called peritoneal encapsulation syndrome. I went in for laproscopic surgery and they found a thin membrane encapsulating my abdoman and pelvis. I also may have Focal Hypo Dysplacia. Do you know anything about either of these two syndromes and their effects on pregnancy? thank you View Answer		2009-10-11


	I have a long list of medications that cause me to experience paradoxical reactions, including: beta blockers, SSRIs, benzodiazapenes, tricyclics, and more. I have red hair and fair skin, and recently I was told that those characteristics carry with them a genetic predisposition to paradoxical reactions. Is this true? Where can I find more information about this to pass on to my children? View Answer		2009-10-02


	My son is 7 years old and has horrible breath and B O. I have been to the doctor for the breath and they say to see the dentist who says there's nothing wrong and to go back to the doc who says they can't find anything to cause this. He brushes his teeth and within a few minutes its just as bad as it was. I just wondered if there was any chance that he could have this disorder. View Answer		2009-09-26


	My 39 year old nephew died this past year. He had an autopsy that was inconclusive as to the cause of death. My nephew was adopted into our family at birth and so we don't have any medical history records of his biological relatives. My nephew was a heavy smoker, unfortunately I learned after his death that he never went to a dr. but instead only saw a therapist during this last year because his symptoms became more intense which included a rapid heartbeat - panic attacks, agitation, anxiety, fatigue, sleeping disorders, hearing voices (mostly in the last couple of months), nausea, not feeling well and increasing events of rapid heartbeat more frequently and more intense esp. in his last days. I believe he was misdiagnosed with panic attacks and onset of schizophrenia when in fact the symptoms seem oddly similar to those of a thyroid disorder - ex. possibly concluding in a thyroid storm event? He was cremated but we have kept locks of his hair. Do you know if there is a place where we can send his hair for them to do analysis and see if he in fact he had a thyroid imbalance. It is important that I pass on to his three children any genetic medical history so they can be aware and have documentation of any genetic tendencies in their medical files as they get older. View Answer		2009-09-01


	I would like to know if the signs below indicate that I should seek a medical genetics consultation for a connective tissue disorder. Mother - myopia, astigmatism, cataracts, retinal detachment, glaucoma, vitreous deterioration, hypermobility, osteoarthritis, miscarriages. Daughter - hypermobility, tricuspid valve regurgitation, bony 2nd carpalmetacarpal joint w/ degenerative changes, stretch marks, fatigue, tibial torsion, hip dysplasia, small mouth, narrow face, neck/back pain, flat feet/pronation, anxiety. Long fingers w/ bony joints. Myself - myopia, astigmatism, borderline high intraocular pressure, cataracts, high frequency hearing loss, hypermobility, neck/back pain, muscle stiffness, headaches, osteoarthritis, sleep apnea, fatigue, anxiety, panic attacks. Pre-eclampsia, club feet at birth; heart murmur heard at times. Diagnosed w/ Fibromyalgia. Negative - Sjogren's, RA, Lyme, MS. Skin involvement - only stretch marks & skin stretching on back of hand. View Answer		2009-08-24


	I have large lips and my wife has medium sized lips. What are the chances that our baby will have large lips? View Answer		2009-08-23


	My younger sister had a genetic disorder that was never fully discovered before her death 6 years ago. (She was not yet 12) My mother stopped testing on my sister 10 years ago, she felt it was unnecessary and invasive. How likely is it that I could pass on a similar condition to any future offspring? Where can I go to get testing done? View Answer		2009-08-18


	Usually female problems seem to be passed on from Mother to daughter, but my husbands mother went through Menapause at age 35 and his sister went through it at age 24. My youngest daughter had her 1st period at age 12, but only once every 3-6 months since. It was initally thought because she was thin and athletic, but now that she is 20 yrs old she gets a slight period every 3 months. Is there a chance that this could be passed genetically from my husband mother? View Answer		2009-08-06


	Hi there. My first son was born with an imporforate anus (the mild version that was corrected with no further problems) and an umbilical hernia that corrected itself. Next I had identical twin boys that I carried till 28 weeks and then lost one and then delivered and lost the other a couple days later (Doctors thought the problem was an unequal share of the placenta). My next son was born with a small hernia below his sternum (he is 4 and his pediatrician is in no hurry to have it corrected). Finally my last son was born with a single kidney (he also had a 2 vessel umbilical cord ). What the heck?! Are these defects exclusive of could we count on more defects if we had other children? View Answer		2009-08-03


	My daughter has been suffering with headaches for many years. Many different neorologists have treated her but she has not had any consistent relief from the pain. I have been doing some reading online and came across Sucrase Deficiency. I read that one of the symptoms of this is headaches. She regularily uses Splenda. Can this possible be a cause of her headache pain. I would greatly appreciate any input you may have. Thank you Stuart Peyser stuart.peyser@gmail.com View Answer		2009-08-03


	40 yr. old male had contracted chicken pox three times in my lifetime. the last time was at27 yrs old. every time i get vaccinated it doesnt last. when i get tested to see if im immune the results come back neg. and i have to get another vaccine. what could cause this. View Answer		2009-07-30


	I received a positive ANA test result from my internal med (GP) doctor, and I have gained 60 lbs in the past yr, am always tired, have migraines and dental problems as well as joint and muscle pains constantly, I would like to know what diseases (I also get bouts that feel like hypoglycemia when I take my meds and need sugar STAT as I shake and sweat profusely-not that I dont usually, but even worse than usual when these happen) what disease does this sound like I should be asking my doctor to consider, I am a 34 yr old female who went from a average of 140lbs. to now weighing 201-208lbs. and have frequent high blood pressure readings as well as very high cholesterol levels. I just want an idea of what I should be asking them to look for. Any advice will help, I am not seeking medical advice ,just an idea of what to consider when seeking diagnosis View Answer		2009-07-29


	Hi, I was watching tv today and they were showing a girl with fibrodysplasia. My daughter is 8 months old and when I was pregnant my doctor said she had a calcification in her heart. Could that mean that she could have this disease? She has had no medical problems as of now and her pediatrician said her heart sounds fine. I am just worried about it. I had never heard anything about this disease til today. Thanks for your time View Answer		2009-07-23


	1- I have a son that had straight brown hair as a child. When he went through puberty his head hair turned VERY curly and his hazel eyes turned brown. What happened and is this normal? 2- I have a daughter whose fingers are growing very long. What happened and is this normal? 3- I have another son who only grew to 5ft 5inches. His dad is 6'3". I am 5'6". What happened and is this normal? Thank you for your time. View Answer		2009-07-08


	I work with a child who has a heart murmur, learning disabilities, anxiety, mild scoliosis, large hands, large facial features, language delays, low muscle tone, processing delays, some OCD, yet has good social skills. Cognition is in the low average range. Do these traits share a specific syndrome or disability? View Answer		2009-07-06


	My son had a collapsed lung about 6 years ago, and no one associated it with Marfan's Syndrome. 2yrs ago march he had an aortic dissection and an aortic aneurysm. The cardiologist said he is "marfanoid like". He has never been Genetically tested for Marfan's. My (ex)husband and I do not have marfan like features. My son has a high pallet in his mouth, extremely long fingers and toes. His chest bows out like a chicken. He has extremely hyper-mobile joints, elongated face, flat feet, his spine seems crooked. I feel he definitely has marfan's, but reading these different web sites, I came across something that has several marfan features, but the cells can become cancerous quickly , it was TGFBR1 gene,...my son has also been bleeding rectally for about a year. My son is unemployed and is 28 years old. I don't know where to go to help him get a valid diagnosis as to whether he has marfan's or something else. He says he is having trouble with his eyes now. He lives in Orlando, Florida and has no insurance, obviously being on unemployment. The only thing I can think of that might be of some importance genetically is my father was also really tall and slender, and had prolapsed mitral valve. But he did not have any serious heart problems. Can you help me get him to a doctor of genetics in Orlando? My son could go to one of the clinics there, but I am not sure they would have the knowledge we need for this. I am really concerned about the rectal bleeding especially when the TGFBR1 has to do with cells becoming cancerous. View Answer		2009-07-06


	hi doc , iamsuffering from Btype.iwant to know is there any promblem for me in concieving because we r trying from last 3 months &is there any way out? its urgent b'coz wer married from last 4 yrs & we desperate in becoming proud parents. Kindly help uswith ur valuable guidence View Answer		2009-06-30


	I have had two occassions with quick onset within minutes of an activity the first with vomiting , diaherria, fatigue,lathargic no food consistency in common. the second episode was activity quick onset dry heaves no vomiting this time but fatigued and extremely nauseated I do suffer from vertigo however the two occassions were months apart and the vertigo is well under control. I do on occassion wake up nauseated but it passes and I do watch what I eat and excercise. The instances go from mild to severe onset quick first sympton fatigue, light headed, nauseated, then vomiting or no vomiting. Have had 4 different occassions first extreme, second exteme third just fatigued and nauseated fourth nausated, fatigue no food in common on these occassions View Answer		2009-06-28


	My 6 year old triplets were just diagnosed with submucus cleft palate. They were ordered blood work and I only had two of the three tested because the third is definitely identical. (he was a mono-mono twin). Will I be able to confidently accept the testing results of an identical twin as the result for both? The triplet who was not tested has ADHD and hearing loss. His identical has ADHD but no hearing loss. Thank you for any information forwarded! View Answer		2009-06-17


	I have a 9 year old daughter who is a twin. She has the following symptoms: Motor skills were slow to develop, Mental skills are developing slowly (just learning to read), Rounded shoulders & thick neck, Walks side to side, Throws temper tantrums/cannot be consoled, She DOES make eye contact and socializes well, Clumsy and often falls/trips, Bad asthma, Not tactile Although she behaves very well in school (spec. ed), at home she has outbursts and often pinches me but is careful not to let anyone see her doing it (so she knows she is doing something wrong). My husbands aunt is mentally retarded but was never diagnosed. She has no specific characteristics/features. There are no mental or physical issues on my side. Do her symptoms match any particular syndrome? Your help is very much appreciated. View Answer		2009-06-13


	I am 51 y/o, female, no children w/ RRMS, RA, Hashimoto's Thyroiditis, Degenerative Disk Disease, Fibrocystic Disease of the Breast and discharge fm both nipples, REM Stage Sleep Apnea, Sleep Seizures,Dysmenorrhea, Endometriosis, Fibroids, Infertility, IBS, Colitis, Colon Polyps, Diverticulosis, Bowel/Bladder Incontinence, acute sense of smell, small strokes with Short-Term memory loss, bone spurs and neuromas both feet, right leg 1 inch shorter than left, sensory differences for right and left sides of body, periods of short-term amnesia (15 - 45 minutes each.) First surgery at 6 months old to "open" both tear ducts, surgery 4 years old to dilate urethra. Family history includes cancer and heart disease. No other family member has presented with any of my medical issues. Would you suspect damaged chromosones or chimerism or? I have been tested by the NG Genograhic Project and show 3 mutations. I am willing to "donate" my living body to science for reseach. Thanks for any help. View Answer		2009-06-12


	Hi, I am a white female, 46yrs. Strong family history, I have 3 brothers, including twins, and 1 sister. Sister: crohns disease. Twin #1:marphans syndrome, aortic valve replaced and later, repair of ascending aortic anuryism, muscle wasting between thumb and forefinger, degenerating bone around teeth causing tooth loss, and multiple joint pains and swelling. Twin #2:marfans and had same surgeries, tia, anuryism in his brain, tendonitis and swelling of joints identical to mine. Brother #3: crohns disease, multiple cysts in kidneys and liver, and arthitis symtoms. Mom: arthritis since young woman, severe diverticulosis and esophogitis. Dad:ulcerative colitis, aaa, athrosclerosis, multiple cysts in liver, kidneys and pancreas. Myself, diagnosed with ibs, recently discovered a wheat intollerence confirmed with antigliaden antibody. Recent sbo, muliple joint swelling and pain. our ages 46-53. Please help, no one knows whats causing deteriorating health. View Answer		2009-06-10


	In trying to diagnose my symptoms, I suspect my health issues have a genetic component. I am wondering where I can go to get screened for genetic diseases in Toronto Canada. I believe I lack the enzymes to properly assimiliate protein. Which medical professional would test for this type of disorder? Thanks. View Answer		2009-06-10


	I have 6 kids,3(set of 14month old twins)were born with Neonatal Graves disease.I also have Graves.I also have an 11 year old son that was dignoised with Graves disease.One of the three that were born with Neonatal Graves disease, has presented with Craniosysnostosis,hydrochephulas,developmental delay,and short stature.The cranio had multiple suture closers,so she was refered to see a Gentics doctor.She has had exstensive testing which includes,additions and deletions,FGFR3,and twist gene,as well as having things sent to the displasia registery.She has also had more thyroid studies,as well as cortizol,and growth hormones,which also came back normal.Our last recommendation from the displasia team is that we have a dismorphologist to check on her,which is now the type of doctor we see.The problem being that they have now said they really can't think of anything else.So is there any other genetic tests you would recommend?Oh and she was also tested for Crozons. View Answer		2009-06-07


	I have a condition called Oddi of Sphincter dysfunction, which I found out I had in my middle thirties. Currently, my sister found out recently that she has a condition called, cyclic vomiting syndrome. The physician told her that her condition is caused by a genetic defect. I think that it is kind of odd that both of us end up with a rare type of gastrointestinal disorder that is effected by the CNS. Is it possible both disorders are related to genetics. There are other similar symptoms that we both have also, such as, loss of memory and muscle weakness. Any help is appreciated. View Answer		2009-06-06


	MY FATHER HAS THREE SIBLINGS, HIS BROTHER HAS A CHILD WITH RUSSELL SILVER SYNDROME AND A CHILD WITH DOWNS SYNDROME. MY FATHERS SISTER HAS A GRANDCHILD WITH DOWNS SYNDROME (THE MOTHER IS 21 YEARS OLD). COULD THERE BE A HEREITARY FACTOR THAT CAUSED THREE MEMBERS OF THE FAMILY TO HAVE A CHROMOSOME DISORDER. SHOULD I BE GENETICALLY TESTED BEFORE I CHOOSE TO HAVE CHILDREN? View Answer		2009-05-16


	I AM A 52 I WAS 19 AND BEGAN TO HAVE LOSS OF VOICE AND BURNING THAT LOOKED LIKE A SUNBURN THEN 3 YEARS LATER I BEGAN SWELLING IN MY STOMACH AND NUMB FACE TWITCHING ,SEVERE VIRTIGO ,SEVERE PRESSURE IN MY CHEST AND ABDOMENAND A STRONG METALLIC TASTE,WHEN I HAVE A BOWEL MOVMENTT IT CAN MAKE IT WORSE/BETTER I HAVE FUMES THAT COME UP IN MY MOUTH THAT ME TWITCH AND DROOL AND MY NOSE AND EYES DRIP. SOMTIMES A DRINK OF WATER OR ONE BITE OF FOOD MAKES ALL OF THIS WORSE AND I START TO SHAKE AND GET SO WEAK OR GET SO HYPER AND SWEAT PROFUSLEY AND GET SO SLEEPY ITS AS IF I WAS GIVEN A STRONG DRUG AND CANNOT WAKE UP FOR HOURS BUT IT WILL GET ALITTLE BETTER THAN WHEN I EAT AGAIN IT COMES BACK AND LAST FOR MONTHS I HAVE HIVES ON MY FACE WHEN I GET THESE FUMES AND IHAVE CONFUSION AND HAVING A BOWEL MOVEMENT WILL MAKE ME WHEEZE AND ILL GET BETTER OR WORSE WITH SEVERE HEADACHES AND PRESSURE IN MY HEAD MY URINE SMELLS LIKE BURNING RUBBER THERE IS EVEN MORE CAN U GIVE ME A TYPE OF DOCTOR I NEED View Answer		2009-05-12


	Hello, I am a white feamle, who has daughters ages 13 and 7. I had a 17 month old daughter who last year unexplainably passed away in her nap...I waited 4 mos. for the medical authorities to tell me, they could find NO reason and they chalked the death up to an "arythmia"....I have been researching the condition....I am currently 6 mos. pregnant and have a great fear of this occuring again. Because i have a blended family my husband and I only shared one other child together - I am wondering if i should seek genetice counseling to protect this child? View Answer		2009-05-11


	I'm a RN & 37 y.o. I was born with severe flat feet which the right is turned out to the right & with coronal hypospadias. At a young age I began to experience my ankles giving out and lots of falls. I have "hypermobility & hyperlaxativity of ligaments" Spinal MRI shows subluxation, moderate degeneration of vertebral bodies, herniation of multiple discs, spinal stenosis" My hips dislocate when I sit "Indian Style" have been Dx/ed with a form ofMarfan's, EDS, and then severe fibromyaglia. Straie. UNBELIEVABLE lower extremity varicosities. Tachycardia and gerd. Severe kyphosis, lordosis, capsular tear in shoulders, osteoarthritis in ALL major joints. Mutliple & recurrent DVT's, PE twice with staddle PE, hemo couldn't find cause. Spontaneous coroneal atresia resulting invitreous jelly area. Sudden hearing loss & constant ringing. I have severe bouts of muscle spasms and stiff necks, back, and various "myositis". Most of my days are filled with lots of pain some are worse than others. View Answer		2009-05-11


	At age 23, I had a molar pregnancy that could of turned been cancerous since I was not diagnosed until the end of the first trimester. At age 34, I was diagnosed with acinic cell carcinoma (salivary gland cancer). Are the two conditions related to the same gene? My pregnant daughter recently tested positive for the recessive cystic fibrosis gene, are either of the above two conditions related to this gene? View Answer		2009-04-28


	My daughter was diagnosed with enlarged parietal foramina via CT scan at 4 weeks of age. My husband nor I have any history of this and there is no family history on either side. Could this still be genetic or is it a random mutation? What is the likelyhood that any future children would have this same condition? View Answer		2009-04-18


	I am looking for a possible condition or genetic condition for the following: long limbs, tree trunk like ankles and wrists, extra long digits of fingers and toes, small rounded shoulders, no noticable hair growth, including rapid growth height is 6'4" at age 14 yet has not hit puberty yet. Thank you... View Answer		2009-04-13


	would you happen to know if a thyroidal duct cist is common amongst the ashkenazic jews? I ask this question because i had this condition as a child, and i just recently found out that i have some ashkenazic jewish in my ancestry. I have done some research and i know that there are alot of genetic diseases in this ethnic group. should i be worried? Could this condition be passed down to my children? View Answer		2009-04-10


	My 19 year old daughter was born with a two vessel cord and I never gave it much concern until I found out today that she also has a horseshoe kidney. She is a bright perfectly healthy young women, with the exception of a kidney stone. My question is, with these two abnormalities should we have someone check her for heart defects? View Answer		2009-04-02


	Hello. I will be very thankful of you if you would answer my three questions that are really making me worried. I have a boyfriend and we are about to get married in a year. But the guy to whom i am going to marry has a brother who is dumb and deaf since his birth and also his father has a higher diabities which was diagonised at the age of 40. He didnt have it since birth. My boyfriend dnt have any of these conditions, but i am worried if after marriage these conditions would be passed on to my baby. Please tell me if this can happen. What are the possibilities? View Answer		2009-03-25


	Sir I have a son 10 yrs old. He`s showing symptoms of alkaptonuria in terms of darkening of urine (REDDISH BROWN) in 5-10 mins after being exposed to air. As of date he`s an excellant sportsman excelling in cricket, football, tennis. He`s not complaining of any pains or any such related problem as given in the articles on Alkaptonuria. I am in Army, Neither me nor my wife has any such problem although we are 41 & 35 yrs old respectively. Both are playing outdoor games. Should we take any precaution in terms of his playing the games as mentioned above as he`s keen on making it his carreer. Also where can I send his samples so that his actual condition can be ascertained. I would be grateful if I can be guided onto the right course of action as early as possible. Thanks Regards View Answer		2009-03-14


	My son died on 4/29/08, after being admitted on 3/23, to the UWICU, with staph/strep pneumonia. He died of MRSSA. He had at least 9 blood transfusions, was on dialesis and was insullin dependant diabetic. I noticed the blood said B+. I am O- and his dad was O+. How could his blood have came to this? If this is right, does this mean he had the RH factor and should've been watched? He did not become insullin dependant until he was 26 and. no one in our families has this condition. There is no way that anyone else could've mothered or fathered this child. He was 38 when he died at the UW. View Answer		2009-03-09


	I have a daughter that we adopted from s. korea. She has been home with us going on 2 years. No problems and completely healthy, but I was looking at a little boy on a waiting child list thru our old agency and seen that he had a skin tag and was just curious and looked up a bit of info. Ran across Emanuel Syndrome and some other names and read a bit. Well to the reason for writing this. Our beautiful daughter has I guess like a pit on each side of her ear. Now I am worrying myself to death. Please send back some feed back. View Answer		2009-02-26


	I now have Osteoarthritis and difficulty walking-combined with severe chemical sensitivity,which I have had many years. Since I have had a squeaky clean lifestyle--and have taken vitamins and Calcium Ascorbate-5000 mgms for over 30 years-I must have a genetic condition which was undiagnosed.As a retired med tech-I diagnosed myself with"Alkaptonuria",because the thought of being a cripple is too much. I would appreciate an answer View Answer		2009-02-25


	Had a son who died of renal dysplasia (secondary to lowr urinary tract obstruction) back in 7/8/83. I have a son with icythosis and I have severe psoriasis. Is this an x-linked gene problem. I also have spina bifida in the upper neck with incomplete segment of C2 AND C3, reduced ventrical height and C6-7 moderate central canal stenosis. Hyperlipedemia and other issues. Were they wrong, could this be related to renal dysplasis. Please help, also extreme memory problems lately. help! View Answer		2009-02-20


	My daughter is 13. When she was 11, I remember the particular day that she came up to me and said that she feel "funny". She was hot, then cold, then became nauseated and dizzy. This progressed to headaches,body pains, and no appetie. After a while she got better but never regained her appetite. After losing quite a bit of weight, she was again nauseated, constipated, had stomach pains, neck,back,and leg pain. She was hospitalized several times. They diagnosed her with an atypical eating disorder and had to go out of state. She put on over 20 pounds and came home in much better condition. She is feeling a lot better, but has no appetite. Someone brought up AIP and she had some tests which showed something was a little bit off but were inconclusive. Nothing else has been pursued. Should I let it go? Also, my older daughter has hypothyroidism and lately has been so fatigued. Her stomach has also been bothering her so we are trying gluten free food. Thank you. View Answer		2009-02-15


	my grandfathers mother (my mothres side)and my fathers mother were sisters . my son has severe dyslexia . My husband blames me and my as he puts it "inbreeding" . what are the chances that this is true ? i would love to know / thank you i know this sounds trivial but it is very important to me thankyou . View Answer		2009-02-09


	Over a span of 20 years my doctors have told me I "probably" have a genectic disorder but they will not pursue it. I need an idea of what to push for. My family history includes: BOTH-curved 4th & 5th fingers-clinodactyly?, abnormally short curved toes-brachydactyly? & short stature but no dwarfism. MATERNAL only-down-turned mouth, migraines, thyroid disorders. PATERNAL only-diabetes, mental illness (mainly OCD). I am 37 with the curvatures, OCD, down-turned mouth, frequent toe cramping, poor circulation, joint pain (knees, wrists, hands), migraines, spina bifida occulta, one ear lobe, symptoms of premature menopause, occassional but increasing tremor in left hand, recent difficulties ennunciating, & an increasing inability to focus mentally. I had 3 EEGs many years ago that showed "abnormal blips" in the left hemisphere. Thyroid & calcium tests are fine. Doctor says my finger joints are changing earlier than expected (?). My daughters have the finger curvature & OCD. View Answer		2009-01-25


	My Nephew is 6weeks old and was born with a full head of dark brown hair and on small white patch in the back, he also arches is head back so far that his forehead can almost touch his back. Are either of these things normal? View Answer		2009-01-22


	I am the parent of a 10 year old girl who seemed perfectly health up until 2 years ago. She walked early, talked early, top of her class in school, no problems to mention. She began exhibiting symptoms that included headaches and complained of throat, ears and legs hurting. Te problems have progressed to involve numerous issues including silent seizures and significant drops in school preformance, also sh has lost 20 pounds. All the doctors say we have a problem but no one can put a name to it. Also the new symptoms are very cold hands after exertion. Any help or suggestions on this matter will be greatly appreciated. View Answer		2009-01-02


	Is androgen Insensitivity syndrome responsible for 'smallness' of penis? If not, what are the causes of small size penis? Is there any 'safe treatment' that can make the penis grow in an adult of about 40 years old? View Answer		2008-12-24


	My 5 year old granddaughter has hemi-hypertrophy. One leg is approximately 1/2 in longer. That seemed to be the only issue until recently when her dentist found only 8 teeth on x-ray. Would it be wise to take her to a Geneticist to see if there may be other issues. We are wondering as well if this condition could be a problem for her if she wanted to have children. View Answer		2008-12-22


	I am an occupational therapist and I work with a 2 year old boy that has global developmental delays. He smells like dill or dill pickles. Their house does not have this smell and mom does not notice the smell but everyone else does. Any ideas what this could be? View Answer		2008-12-19


	I have an 8yrs old patient complaining of voiding dysfunction ( enuresis by day and night ); by urodynamic testing there was complete loss of bladder sensations, with difficult evacuation inspite of presence of high intravesical pressure. There's history of losing control for stools. By asking his mother; there's over eating resulting in en evident over wieght. No other neurological deficit except for attention deficit with educational problems. His IQ is normal for his age. Normal EEG. By doing MRI brain there's partial corpus callosum defficiency. Is he in need for genetic testing? What are further investigations suggested? WHAT IS TH PROPOSED MANAGEMENT OF SUCH A CASE? View Answer		2008-12-14


	I have a set of twins that were conceived using invitro fertilization. They are now 5 and about 3 years ago my daughter in the set of twins started to have this uncontrollable appetite. Prader Willi was mentioned. Could this be a risk of Invitro? How does this happen when she was and is a normal child with a normal IQ? Is there another disorder that can allow a child to eat without feeling full? View Answer		2008-12-06


	My father had MS and kidney stones.I was diagnosed with Von Willibrands disease along with 3 of my children.I also have a history of kidney stones. All of my grandaughters (3) were born with closed sacral dimples. My oldest granddaughter was diagnosed with T1D at 24 months and celiac at 5 years. I am an only child. Although, my husband and I do have a LDS heritage via both sets of parents. His mother also had R. arthritis and bone Ca. My mother has osteoparosis. My husband has 3 siblings, non affected nor is he. What is happening? View Answer		2008-12-06


	9 year old son who has had a "normal" life so far with the following exceptions . born full term weighing 11 lbs forceps delivery Pitocin induction. 1 week in NICU due to Transient takipnia in Newborns. some speech delay. Met all other milestones . countless ear infections, bronchitis, pneumonia, chest pain, croup, "indigestion". lines up objects & toys. heightened sense of smell; continued enurisis, trouble sleeping for almost 8 years. remarkable memory and has always self stimulated by jumping jacks. father is Bipolar and ADHD. However, socially he has no problem. participates in team sports, has many friends. Seen Pediatric Neurologist, Ped gastrointerologist , psychiatrist. All say he is normal. I wish that were true .He never lies, is considerate , compassionate . mild autism with savant syndrome? ADHD even though Psychiatrist said no? Tourette's ? He's somewhat clumbsy. sloppy handwriting but is brilliant! View Answer		2008-11-19


	Is touching your tongue to your nose a genetic trait or a talent? View Answer		2008-11-11


	My 6 yr old son has hemihypertrophy for which he has routine ultrasound every 3 months, and followups with geneticist at St.Peters, and ortho consultation yearly. We are expecting our second child shortly. Will saving the baby's cord blood help in treating my son for his condition if he develops any complications later god forbid ? View Answer		2008-11-04


	My 4-year old niece seemed to have had her shoulder blades jerking involuntarily. It's the first time we have noticed this while she was playing with one of those "first computer" toys for preschool activities. At first we thought she was doing it, but I think it was due to the stress she was put into. We have put the toy away, since seeing her like that is really, really concerning. My question is whether this is a neurological condition accelerated by the computer toy or if this is something that would normally happen to children under stress? Thank you! View Answer		2008-10-13


	My daughter was officially diagnosed wit E.D. in mid '90's, when the doctors looked at you like you're stupid because they had still never heard of it. Well, I'm 48 now, I have constant pain in my joints and muscles. I used to be active and strong to keep my muscles strong, but can no longer do that. What now? By the way, my girl is 17, still has pain, and has mild scoliosis, and mild pectus excuvatum, but I'm afraid when she gets to my age, what's going to happen to her? View Answer		2008-09-29


	My brother suffers from a disease that doctors have not been able to diagnose. When he was 15, doctors believed he had bipolar disorder & for ~3yrs he was treated this way; however the diagnosis was discarded & acquited to a bacterial infection in the back of his brain. The doctors drained most of the mucousy membrane from the brain; post-treatment, he began to loose a lot of weight (~80lbs in 6 mo) & his arm & leg muscles began to weaken to the point he would loose his balance & fall down. Recently, within the past wk, he's had 16 convulsions. In the convulsions his body stiffens, turns to the right & his mouth foams. When he recovers consciousness he gets amnesia for ~10min. In spite of an epilepsy diagnosis, 2 features don't fit in the scheme; 1-continual slurring of speech, 2-side to side walking & limping of the body to the right. I think the disease is genetic but don't know if these symptoms fit the brain/nervous system or some other area. Could you please help me? View Answer		2008-09-15


	Should I do genetic testing for my 3rd son, who is 5? He was full term, normal weight (6 lbs), but from birth on was declared FTT for a couple years (with monthly weigh-ins at the pediatricians, and excellent care and feeding at home), underweight (has never been on the actual weight chart since about 4 months old, always under the 3rd %ile), and behind on every milestone. He has a very small stature and is at least 6 months developmentally behind. He didn't speak much until age 3. Autism spectrum completely ruled out. He has chronic eczema and poor muscle tone. He does not enjoy eating much (would forget to eat if not coached), but has no digestive problems except mild constipation. He has a beautifully "regular" face and features but his nose and ears do not match the family's. He has a happy disposition and engages in imaginary play for hours a day. He seems to have a mild syndrome but I have no idea which one. View Answer		2008-08-24


	Thank you for reading this. I have not been clinically diagnosed with an genetic abnormality. However, I have not seen anyone with my body type before. If I may explain...for example, the muscles on my right leg (calf and thigh) are much bigger than on my left leg (nearly double). Also, my right foot is twice as wide (more like a man's foot) than my left foot. I have had Xrays that show a marked difference in the bone size, as well. As a child I had a limp that caused the doctors to think I had polio. The reason they ruled that out was the short leg (my right) was much stronger than the long leg (my left). Can you tell me something about what this is, or how I can go about getting tested? Thank you, again, for reading this. I look forward to hearing back from you. View Answer		2008-08-06


	I have two sons 23 and 18. My eldest son has a jaw that pops loudly; dislocation of a hip; and a knee that is painful and swollen. He can bend his arms, neck and shoulders in an "un-natural" possition. He had a meckel's diverticulum (caused by the umbilical cord not disolving but turning into more stomach cells) a couple of years ago that was corrected - he nearly bled to death waiting for the diagnosis. My youngest son was born with an artery missing (or torn away) from the umbilical cord; has stretchy skin and striae for no apparent reason; his eye pressure is always over 30 - no glaucoma; and he can "crack" nearly every bone in his body (which I heard while pregnant with him). Both have irregular heart beats. Can all these things mean they could have EDS? Would EDS cause an artery to tear away from the umbilical cord, and high pressure in the eyes? View Answer		2008-08-05


	My son, 11，52"， 90 ＃. Ｐed　concerned ｗ／weight gain, ｓｌｏｗ growth. IGF ＝ normal, TSH ＝ 8＋, Ｔ　cholesterol = 271, triglycerides = 674! Ａｐｐｔ．　ｗ／ cardiologist & endocrinologist this weeｋ．Bloom popped up　ｏｎ　ｗｅｂ　ｓｅａｒｃｈ. ３％　ｈｅｉｇｈｔ, ６＃　＠　ｂｉｒｔｈ，　has　prominent／ｌｏｗ　ｓｅｔ　ears, small chin　＆ sun sensitive，　ｓｍａｌｌ　ｐｅｎｉｓ. 8 ear infections １ｓｔ 7 months of liｆｅ　ｎａｓａｌ　ｐａｓｓａｇｅ　ｂｌｏｃｋｅｄ　ｂｙ　ａｄｅｎｏｉｄｓ, no sucking reflex & milk/soy sensitivities, developmental delays：　sitting up, walking, reading, hypermobility joint syndrome, hypotonia, dyspraxia, croup, pneumonia, bronchitis, atelectasis, pertussis, strep w/scarlet fever, ＣＦ（－），severe asthma. Ｂeing treated ＝mood disorder, anxiety, sensory processing disorder. Ｏral ulcers since infanｃｙ. immature　ｆｅａｔｕｒｅｓ & voice is high.　Ashkenazi Jewish descent　ｂｏｔｈ　ｓｉｄｅｓ. I had 3 miscarriages w／ｏｋｎｏｗｎ　cause. Ｓon　teased about his size. Ｂone age xray, accurate bone age for　chronologｉｃａｌ　ａｇｅ．　He takes Lexapro, Seroquel，Symbicort, Rhinocort／Allegra. Ｏn Propulsid as an infant． View Answer		2008-08-03


	I have a child that was born premature 32 weeks and she weight 4 pounds 11 ounces. She was born with no sugar. She had a enlarged tonque and large head. She had heptoblastoma at the age of 2 1/2, which was treated by chemo and removed her left lobe of her liver. They recently found 2 spots on her right lobe of her liver and another on the right kidney. They do not know what the spots are but they are not getting any bigger. The doctors state that it may be dangerous to do a biopsy considering where the spot is directly under her diaphram. She was never diagnosed with Beckwith-Wiedemann syndrome, but all the effects seems like it is. Can you give me any advise about this? Concerned mom of a 7 year old. View Answer		2008-08-02


	My niece is going into the 5th grade. She is developmentally and physically leaps and bounds behind other children her age. I have always thought there is something wrong with her. Around 6 months to a year old, she was taken to several doctors who had her tested for many things. The concensus was that she "was just going to be a small person". She is not a dwarf or midget although she is several inches shorter than average. She only weighs 50 pounds. She has thin limbs and prominent knees. I do not know how to explain this, but her hands are not right. They remind me of a chimpanzee. Her hand coordination was retarded in development. She can only just recently actually brush her own hair and put it in a ponytail. Her face is emaciated and skeletal looking. She has a speech impediment and had to attend summer school this year because she is behind. She does not have any signs of premature aging or progeria. View Answer		2008-07-30


	hello, i am a 50 year old black american. i have genetic abnormalities that are atrributed to other races. i have often since child hood had illness that have made me look as if i have fake the ilness. as a child my lip would swell so big and my hand would be like on firer now it found out as an adult c21 deficiency. next i was just tirer (1986) later after trying to convince doctors thallasemia . in 2000 at age 42 i have a major stroke. i had no risk fastors i am ateletic built and low blood pressure 90/60 normally (although it worries myself) test for antiphosph lipid . the doctors were at lost they tested me for every virus . they tested for bacteria and also drugs. i conitnue to episodic strokes(tia) last was i months ago. i had a half brother that also had problems which i do not know his where abouts. lately my sister told me years ago he stated we should be tested my sister dismissed it and i was wondering if you have any ideal. View Answer		2008-07-29


	I have 3 year old child who was born with a cleft lip, now I want to have another one. will my second have a cleft lip too ? what can I do to determine the chances of a second child with a cleft? If I must do a test what's its name? finally , will the answer be posted to my e mail too? I hope to recive an e mail from you God bless you View Answer		2008-07-27


	Thyroid desease runs in my family, with my mother, sisters & myself all having some type. My 17 year old daughter had cardiac regurgitation. My 14 yr old daughter was diagnosed, by a Geneticist, with Ehler's Danlos Syndrome. My 6 year old son was diagnosed with Autism, which I feel could be a genetic disorder. Should we be tested for Mitochondrial DNA disorder? If for no other reason than peace of mind. And which type of test would be better; blood or muscle? View Answer		2008-07-20


	I have Fibromuscular dysplasia, both parents exibit EDS symptoms as do many of our family members. My sister is extremely pigeoned toed. It is causing her extreme pain in her lower back. She walks on her toes. she has hip, knee and lower back problems. Lately her leg and foot has been going numb. She has been to several doctors and no one has given her any kind of diagnosis. They recommend physical therapy, pain meds, ect. She is still working and she stand on concrete all day. what kind of doctor does she need to see to get a diagnosis of what the problem is and what she can do? View Answer		2008-07-19


	I have a student in my class who is now 40 yrs. old (culinary school)From the first time I saw him I felt that he may have been born with problems. He is average height, a bit heavy but walks stooped over. He has a large jaw, and a thick tongue. He shies away from communicating with people and has walked out of class, because he felt too hot,cold,needed to go to the restroom etc. It always occurrs when we have a group project. I spoke to his father about him and was told that he had been tested for many things. He told me that his deceased wife told him what the name of his problem was, but he has forgotten. Dad is close to 70 and this man has never lived apart from his family. With these few symptoms do you have an educated guess? View Answer		2008-07-13


	I have been undiagnosed for five years and I have been told it may be helpful to see a geneticist .Exactly how does a geneticist help with patients who have an undiagnosed condition. View Answer		2008-07-04


	I'm wondering whether there is a possible link between a number of traits we've seen in our son... he has a double crown, webbed toe between second and third toes on left foot and is experiencing articulation difficulties. We've had him evaluated for speech therapy and his vocabulary/comprehension are actually great for his age but his articulation significantly behind. He is almost four. We've also been told he has a high palate. View Answer		2008-06-22


	Could the following conditions be symptoms of a genetic disorder or just multiple birth defects? (hypertropic vision, tibial torsion, femoral retroversion, very flat feet, some scoliosis) Surgery has been helpful; age 11, strabimus on one eye, age 15, double ostotomy. Son normal at birth except jaundice and lopsided head. Problems keeping pace in gradeschool and sports, pain in legs and feet gradually led to above diagnosis. Around age 13 began to develop additional features also not known in family history (heavy brow ridge, head juts forward, sloping rounded shoulders, carries hands with palms facing back.) Current problems: knee pains, malaise, fatigue, very dark circles around eyes, coughing up sinus drainage in morning, irritability. View Answer		2008-03-14


	I have 3 children;FirstBorn boy;no learning problems,C.A-degree.Second Born;daughter;problems with speach development,tactile problems,serious learning problems;Funny brown patches on uppper arms and decolte ,normal birth,,very happy baby,phobia for birds?Third born;boy,unhappy baby;ticks,concentration problems and behaviour problems as young child.Now second year at University,struggles a bit,but very hardworking. The children's physiclal development was normal. My husband &I both have university degrees. Children are now well adjusted grown-ups and especially my daughter would like to no if her children can inherit her problem,It was a big and expensive effort to get her through school. At the moment she teaches pre-schoolers. View Answer		2008-02-21


	I have recently married a man with three children. Two out of the three, one a female & one a male, have microcephaly. They seem of close to normal intelligence. The male also had esophageal atresia at birth and had a trach for five years. What are my chances on having a child with microcephaly? Before I do become pregnant, what type of testing should I have? View Answer		2008-02-21


	Could you please explain why since birth, I have not been able to consume sugar in any form, Fruit, sweets chocolate cakes medicine. My Mother discovered this when I was very young baby; she breast fed me; when I was weaned she put me on cows milk, I had no problems with; one night she ran out of milk and mixed condensed milk for me; I drank some of the milk and then started screaming and would not drink anymore; this happened twice before she realized that it was the condenced milk that I could not tolerate. As I got older it became more evident that it was in fact any food containing sugars.If I do eat anything containing sugar, I first become nauseous, then I experience sharp pains in my stomach, accompanied by dizziness, and this can last for anywhere up to a few hours, depending on what I have eaten. It normally takes about 30mins after eating before I experience dicomfort.I have never met anyone else with the same condition, could you please explain why this happens. View Answer		2008-02-04


	my sister is suffering from the disorder called anhidrosis. she is wishing to stay a lot of time in water . she is not getting any sweats. is there any genetic therapy to cure that disorder? could you please tell me the genes which are responsible for anhidrosis? View Answer		2008-01-25


	i am doing my biotechnology graduation.i am doing my research in hibernating humans.could you tell me about the genes which are responsible for hibernation?do hibernation in humans result in anti-aging? View Answer		2008-01-23


	Hi. I'm 22 years old, and I have strange illness, and I don't know what it is. The main problem is that my right side of body is smaller than left side. This disease cause minor(sometimes severe) pain in my sinuses, left shoulder, and arm, during the whole year. I can feel asymmetry in facial bones via touch. Size of the eyes, and ears(shape, size) also are different aprox.15-20% each other. Differences in other parts of body vary between 5 to 40%. I suppose that might be Parry-Romberg syndrome, but this disorder touch only face. In my case there whole body is affected, even hairs grow up in different manner. It looks like someone add two different half-bodies together, and put life inside... My mom has similar symptoms. What could this be? Thanks! View Answer		2008-01-16


	is there a link to avascular necrosis, chiari malformation, and microcytic hypochromic anemia? View Answer		2008-01-11


	I was wondering if trilling your tongue to pronouce the spanish letter erre is a genetic trait? Also, is whistling a genetic trait? I am 25 and have practiced, but have never been able to do either one of these. View Answer		2008-01-04


	my question which has been haunting me for some time now, is whether or not, work ethic is genetic. My father is lazy, hasnt worked in ten yrs, but my mothers side of the family are hard workers, so thats my question. Could work ethic be passed down through genes, because I have trouble holding a job, cant seem to make progress and im 27. So i blame my parents alot.Maybe they raised me wrong. View Answer		2007-12-08


	I completed my graduation .but, my height is 4.9inches {22yrs}female.So, any chances 4 growing height plz inform me to my mail. by d sake of dis height problem my fnz all are teasing me.plz give me any solution.I hope the earlist reply from your side.thanking you. View Answer		2007-11-21


	I am the mother of a six years old baby girl whose weigth is 130 pounds I've been really looking thru her diet but she is resistante to losse weitgh.Her pediatrician did some exams on her and everything looks fine but I dont understand why she is overweigth specially if we take really good care of her we already consult a nutricionist and her eating habits now are better and for now she is not gaining weitgh but she is not able to losse. I am extremely concern so she is too she feels bad at school the way her friends look at her. Please advise if there is any resourse or further step that I could take to help my daugther. Thank you in advance for all your time and support. Kindest Regards, View Answer		2007-11-01


	I am currently working with a student who has yet to be diagnosed. He appears to have some sort of syndrome. The following are the characteristics that I notice: large head, broad forehead, upturned nose, broad shoulders, narrow hips, severly delayed speech, severly delayed ambulation, sensitive skin, used only gutteral noises. View Answer		2007-10-25


	I kinda want to know what I might be dealing. I have a very special child. I started to know something was wrong with him when he was a baby. he used to bang his head against the wall and when he would get hurt he would go right back to it and do it again. He would and still does bang his head against his pillow to go to sleep. He likes food and if he dont get it when he wants it he will go through the garbage cans and he is always hungry. Whenever you tell him something he repeats you. He turns lights on and off repeatedly. He likes lights. He opens and closes doors repeatedly. He takes his toys apart all the time. He has energy like the energizer bunny that is not stopped with ADHD stimulants. He cant stop touching people or things, and is sensitive to light, and does not cry when hurt.He is intelligent but refuses to do school work even though it is easy to him, and he is only six years old. I can problably go on forever but do you think you can give me some insight. View Answer		2007-10-24


	A question about the 'simple' concept of tongue rolling...what is the liklihood of two parents who are able to tongue roll having a child who is unable to do so?? View Answer		2007-10-21


	i met a family who admits they don't follow a healthy lifestyle (e.g. they're not into eating veggies and fruits and exercising isn't really in their vocabulary) but from 5 generations, only one person died, and all of them are still living. the person (from 3rd generation) who died is a blue baby, and they didn't expect this person to live until 45 years old. they say their genes make them live long. how true is this? what's the basis for this? View Answer		2007-10-02


	Should there be genetic screening and / or regular exams on parents of Hirschsprung's affected children , regardless of whether they have a family history of MEN2a or not, for symptoms / signs of MEN2a? The mutation leading to the child having Hirschsprung's might have occured in a parent, and might be a familiar occurence. Do the parents need genetic counceling - and meaningful counseling probably includes screening for RET proto-oncogene mutations - or not? I can't find this answered anywhere clearly! View Answer		2007-09-25


	I have a friend whose mother's nose has grown significantly as she has aged. Is this a hereditary condition? What is the cause of nose growth with age? If it is hereditary, will the growth be about the same in both the mother and the son? View Answer		2007-09-21


	Could there be any genetic links between the following conditions or are they just coincidences? Do you know of reseachers/labs whose research this falls under? Mother: bicuspid aortic valve, fibromyalgia(?) Son: Infertile, Sertoli cell problems/azoospermatic, low testosterone/high FSH, first test indicated XXY mosaicism -second test normal. Daughter: Infertile, diminished ovarian reserve/premature ovarian failure, bifid uvula and notched hard palate. All have within normal intellegence and physical appearance. No other offspring. View Answer		2007-09-17


	I was diagnosed with congenital Ventriculomegaly. My mother had a miscarriage four years before my birth, I was 8 lbs, and in my birth records it states I was placed on continuous oxygen support and placed in a warmer I had a 99.5 fever on the second day in the hospital and it says NPO on my birth record then. Is there any tests genetically or chromosonally that are related to Ventriculomegaly?? View Answer		2007-09-14


	I have a cavernous malformation in dura area of cord. As well, out my nieces and nephews, their are four uncommon diseases or conditons, of whom none are siblings to each other. Those diseases include, Sickle Cell trait, Ehler-Danlos, Euro (something) porphyria, and Marie Charocot Tooth. As well, other family members have been diagnosed with MS, and spinal myeletis. Those others not diagnosed, some have lazy eye. How do I impress upon my primary care, that the odds of four rare diagnosed disease out of my mothers 21 grandchildren, should give them cause to give me gene testing.They are not considering me to be a part of these diseases, and frightens me to think, that they could neglectfully harm me with wrong medication, by ignoring this great coincidence. Thank you. View Answer		2007-09-10


	I am the grandmother of a 9yr old boy who weighs 52 pounds and looks skeletal. He seems to have been born with no fat at all. Is there anything we can do? Is this a birth defect that is inherited? He breaks your heart. Anything you could tell us. The drs can't find anything wrong. View Answer		2007-08-23


	I have a 6 year old girl with Hirschsprung's Disease & Vitiligo (possible Waardenburg-Shah type 4 syndrome). I also have another daughter (3 years old) with Hirschsprung's Disease and Transposition of the Great Arteries. I wonder if they qualify for any genetic testing or geneting counseling. View Answer		2007-08-17


	To Whom It May Concern: Six years ago, I was diagnosed with non-alcoholic Pancreatic Insufficiency and malabsorption by a 72 hour fecal fat test. My symptoms were abdominal pain, some mid-back pain and chronic steatorrhea for 20 years. My Pancreatic Ultra Sound, Cat Scan and MRI all showed no abnormalities of my pancreas or other organs, and my serum liver tests have all been normal. I have tested negative for Celiac and Lactose Intolerance. The doctor said he believed I have a part of Cystic Fibrosis because I have had life long abdominal pain & nausea, along with steatorrhea for the past 20 years. I did have a negative sweat test, and was given Pancrease to take with meals. Now, six years later, I had another fecal fat test while off pancreatic enzymes, and the result of the 24 hour fecal fat was a high of 20.4, and my Serum Trypsin level was a high of 330. I am now taking three 10,000 Creon with meals. I still have no definite diagnosis, and suspect that this is possibly either Cystic Fibrosis or another genetic disorder. I have four children of childbearing years, two small grandchildren, and three brothers, one of whom has told me recently that he also has had steatorrhea for about 20 years. I would like very much to have genetic testing, but don't know where to go to have testing done. I really need to find out what I have for myself and my family. Thank you very much for any help you might be able to offer. View Answer		2007-07-31


	I have had low triglyceride results (in the 30s) all my life and have had nuerological issues, cancer, extremely low energy levels, hypoglycemia, fibromyalgia, abnormal brain mris, and numerous other health issues. Are there any genetic mutations that would result in low blood triglycerides? Could this be a factor in any of my health issues? My mother also had the same condition. View Answer		2007-07-26


	I had a spotaneous pnuemothorax at 16, one of my sons just had the same thing at 15. We do not have Marfans, but am looking into FLCL, BHD GENE. I don't believe we have Birt-Hogg-Dube syndrome, but was wondering if there is a possiblity of having it partially. (Hard to put into words). I am actually thinking our bodies don't produce enough Taurine. My mother died from Cirrhosis. She did drink, but not that heavily, wich kind of leads me to galactosemia, since I and my son are hypoglycemic. I have a 2 1/2 year old son and would like to get to the bottom of this before he has the same lung issues. Any thoughts would be helpful. View Answer		2007-07-24


	I have a daughter with an unspecified condition, but not because of lack of testing. She is 5 years old and weighs 26 pounds, quite tall for her age, and has multiple disabilities. She has been diagnosed with Autism, (pdd-nos), and she has had scores and scores of testing done. She has seen more physicians in her 5 years than i have my whole life. I wou ld like to get some insight as to who or where I should turn. Her Geneticist is Dr. Hopkin and he is stumped. He is not the first geneticist to have seen her either. She feels and responds to pain like no other, she breaks her bones and hardly notices. On 1 occasion I wasnt even aware she broke any bones. I was horrified to find out she had played all day as if nothing was wrong until i gave her a bath that night. I feel like i am at my wits end and i dont know what to do. I would love to be able to shield her from any harm but she is going to attend school this year with a classroom designed for children like her. I am scared to death for my child. I NEED HELP!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!! View Answer		2007-07-12


	My 15 year old daughter has several unexplained medical symptoms: positive ANA; severe hair loss; hirsuitism; slow healing wounds (scars easily); skin has poor barrier to infection; stretchmarks; elbows that pop out of joint. We've seen a rhematologist, endrocinologist, dermatologist and orthopedic surgeon. They've ruled out lupus, slceraderma, PCOS, Cushing's, and Alopecia. However, no one's been able to make a diagnosis that explains the problems. Her paternal grandmother had scleraderma. Do you think each of the unexplainable symptoms could be indiciative of a genetic disorder? If so, what type of doctor should we see next and where? View Answer		2007-07-10


	IT WAS DISCOVERED AT 10 WEEKS OUR DAUGHTER HAD 4 RIB FRACTURES ON 2 RIBS AND 2 SKULL FRACTURES, OUR DAUGHTER NEVER SHOWED ANY SIGNS OF HAVING SUCH INJURY, AND CT AND MRI SCAN COULD FIND NO EVIDENCE OF HAVING ANY OTHER INJURY WHATSOEVER, THERE IS NO DAMAGE TO BRAIN, NO BLEEDING, NO DAMAGE TO INTERNAL ORGANS OR NO FREE FLUID AND NO SIGNS OF DAMAGE EXTERNALLY, EG ON SKIN, WE KNOW NO ONE HAS HURT OUR DAUGHTER SO WE ARE DESPERATELY TRYING TO FIND IF THERE IS ANY CONDITIONS THAT MAY CAUSE THESE FRACTURES, SHE HAS INJURIES TO THE 10TH AND 11TH RIB POSTERIORLY, ON THE RIGHT HAND SIDE ONLY, IS THERE ANY GENETIC TESTS WE COULD DO TO FIND OUT IF THERE IS SOMETHING WRONG WITH HER, COPPER TESTS WERE NORMAL, OUR DAUGHTER WAS 10 WEEKS WHEN X RAYED BUT RIB FRACTURES WERE DATED THAN AS BEING 6-10 WEEKS OLD, OCCURRING THEN BETWEEN BIRTH AND 4 WEEKS, BABY NEVER CRIED AT ALL, NOT EVEN WHEN HUNGRY, SHE STARTED TO HAVE FITS WHEN AGED 4 DAYS, DIAGNOSED WITH SLEEP BENIGN MYCLONIA, WE LOST A BABY PREVIOUSLY TO MISCARRIAGE AND WERE TOLD BABY JUST DID NOT FORM PROPERLY, MY SON HAS NO INJURIES AT ALL, BUT HE HAS A DIFFERENT FATHER, WE WONDERED IF THERE MAY BE SOMETHING THAT WE PRODUCE GENETICALLY THAT MAY CAUSE OUR OFFSPRING TO HAVE FRACTURES, THEY SAY SHE HAS NOT WEAK BONES, BUT WE KNOW NO ONE HAS HURT BABY, PLEASE HELP THANKS View Answer		2007-06-23


	Respected sir,my daughter 7 years old having blood reports as below,please guide me what to do?what other tests are required ?and what care and medicine is good for her,.doctors suspects wilson dieses?is it true? ceruloplasmin :0.083g/l copper:50.8 mcg/dl total bilirubin:0.8 mg/dl direct bilirubin:0.3 mg/dl total proteins:6.8 g/dl albumin:2.7 g/dl,gammagt:281.0 u/l sgpt 137 u/l sgot:208 u/l alp:371 u/l anti hav-igm:nagative anti hev-igm:nagative ana:0.44 anti hcv:nagative hbsag:nagative platelets:235000 cells/cu.mm prothrombin time test:17.6 secs. control:13.5 secs. i.n.r.:1.35 ultrasonography of abdomen liver is enlarged portal vein measures 10mm in diameter other things are normal hepatoemgaly with normal echotexture. so in th above mater please kindly advice me thanking you View Answer		2007-06-22


	I have 2 conditions I want to get resolved. 1st is I have anitbodies on 100% of my sperm. This condition will not allow the sperm to penitrate the female egg's membrane, thus my wife cannot get pregnent. 2nd I had 2 surgeries that severly impacted my lext calf muscles. The 1st was reconstructive surgery on the ankle which the doctor released the fascia in my calf to lenghten the achillis (in retrospec not a big fan of this procedure) the 2nd procedure was fusion in my back (S1 L5). I have/had experience for 4 years a numbness/ bengay feeling down the outside of my left leg and through my calf to the outside of my foot. I have worked the calf muscle tirelessly and everyway possible i.e.weights, jumping isometric but nothing has worked! I was an avide Bball payer intill this now I cannot stand on my toe.Can Gene Therepy help these condition? How can i get help? View Answer		2007-06-16


	My son was born with hirschsprungs disease. I was just wondering what the probability of me having another child with my husband would be of me having another child with this disorder. View Answer		2007-04-25


	My father was a Vietnam Veteran and died of Agent Orange exposure. He had died at 55, with diabetics type2 ,hypertension and the death was caused by a brain stem tumor. This diabetics and hypertension my aunt(his sister has) his father died from that young (50). His mother died in her late 30's with cancer of the stomach, I also have a cousin (1st) that died from colon cancer as well in her late 30's. (She was on my grandmothers side.) There is cancer , diabetics and hypertension on both sides. I have been ill for 13 years with a chronic condition , that has really always made me question , was there more to it genetically, or did it apear out thin air. I am also a borderline type2 diabetic . I was and now have it under control due to wieght loss. I am 33 years old , My concern is that lately , I have been struck with this malabsorption mystery. I have 2 boys, and I wonder if gentic testing would solve this latest problem for me. the scarey part is everyday waking up not knowing what is going to happen or how I will feel to take care of my children . I hope you can help me with an answer. View Answer		2007-04-23


	Hi,I'm a 25 year old male who is 5'2" and have a mother who is well under 5' tall. My father is of average height for our cultural background.If I were to have children with a partner who is a few inches shorter than I am (but has parents who are of average height for our culture-- both parents are taller than her) , would their heights be on average the same as ours? I don't know the mode of inheritance of height, but is there a chance that children could have two 'recessive' alleles that result in an abnormally short height (height taht could be classified under dwarfism)? View Answer		2007-04-02


	Hi,Would appreciate any advice please. I was born with a unilateral cleft lip and palate with no other disorders. I am wondering what are the chances of me passing this onto my future children. I also have 1 uncle with the same condition. View Answer		2007-03-12


	My granddaughter is 17 months old, barely weighs 15lbs and is very short. We have had her tested by a pediatric endocrinologist and there were no findings. We had her to a pediatric gastroenterologist who by sight was convinced she had Celiac disease, but a biopsy came back negative. She is bright, walks, talks and is otherwise a happy well adjusted child. There are short individuals on both sides of the family. Should we just not worry or at this point should we seek the opinion of a pediatric geneticist? View Answer		2007-03-12


	I have a maternal uncle with Down's Syndrome, another with a heart defect (patent ductus arteriosis,I think) and no rectum @ birth who died age 3 months, and another that died at birth with uncertain birth defects. My aunt from same family has MS diagnosed age 40. I have 2 daughters, 1 son over 18 assumed to be perfectly normal but what risk is there for them when they have children. View Answer		2007-01-31


	I know of a family with 12 children (8 male), 5 (males only) of whom seem to exhibit similar syndromes: hyperteliorism, high, bossing foreheads; 2 with some LD and behavioral problems that they have struggled to overcome. The rest of the males are of above-average intelligence. All of the children are of normal stature, however. There is no known familial history of this on either side of the famiy. The father was a VLBW premie and still has doliocephaly and a high forehead but with neither bossing nor hyperteliorism. The only issue has been bipolar disorder among some of the father's family members. THere is no similar physical characteristic amongst any of the mother's family. Is there any other explanation for this seemingly 1st generation familial characteristic? I would appreciate yoru thoughts and evaluation.I am a family friend and a nurse practitioner. View Answer		2007-01-24


	To Whom It May Concern: I am trying to write a paper on genetic research focusing on enhanced human performance. Is there any sources you would suggest i review if any? View Answer		2006-12-31


	I dont know for sure whether my daughter has a genetic disorder but I will give you a list of symptoms. -she is very thin (11 y/o old and weighs 50 lbs) -large ears -chronic lower arm and leg pain -often can't catch her breath and heart beats so fast accompanied by severe headache, shaking abdomenal pain and sever leg/arm pain. Often times this happens shortly after she eats. It's almost like her body cant digets nutrients (something) properly. I am currently having her seen at mayo in rochester, mn, but am not hopeful that they will find the problem. HELP View Answer		2006-12-17


	My son is 19 and is short (5'5.5) I recently noticed his feet are very small (size5?) but alarmed at the width below the "toe line". They look like hobit feet, I got on the internet to see if there is something to this, he recently stopped attending college and is unmotivated to find a job (mental health issues?). My 14 yr. old son, (4'8") is short and not near puberty, his feet seem ok width wise, flat foot tho, has had dry skin issues, some constipation, is overweight. I am 5'3", dad is 5'11". I was wondering if you could tell me if there is any connection... I am the mom, didn't choose that category b/c not sure if this is a concition? Any thoughts? View Answer		2006-12-08


	Is there a genetic link or rare syndrome to feral-like behavior and appearance in children? View Answer		2006-09-26


	On my fathers side of the family (eight children) there is an obvious genetic disorder because of the pesence of diabetes 2 ( second generation), autism(second generation), and something that resembles hemochomatosis (both gernerations)or a porhyria with some type of pshycosis or phobia( like schitzophrenia) from the paternal side with onset between 20 and 40. Some of the major notes is that they all from Germany, had chicken pox and where possibly treated with asprin except a daughter in the first generation that exihbits symptoms of xxx or some mosaic form. Her mother had chicken pox during the first trimester. I belive that the 2nd gen autism might be Retts or Klinefetlter but have no way to prove it. Could it be possible for an xxy mosaic and an xyy mosaic or simular variations x and y transjunctions to have chlidren that wouldn't suffer more genetics defects. Or could it be a distubance on chromosome 4 instead of 5. The mother of the family shows physical signs of hemochromatis type one and the father has had severe kiddney failure. I myself am starting to show symptoms of the main family curse with major parasomnia. I, like my father have webbed second and third toes. And what I believe is a highly functioning form of autism or a related disorder. Is this possible. And if so, what are the chances of my mother carring a form of lupus passed by her family that carried simular symptoms. What blood test could I take to prove any of this, of would any of this show on an ANA panel for lupus. Also I have been exposed to high levels of heavy metals. What do you think? View Answer		2006-09-11


	We have a 19-year-old adopted Korean-born son who has had numerous surgeries to correct his cleft lip and palate. I am wondering what the chances/odds are that he might pass this genetic abnormality on to a child of his own? Is it possible for males to do this or is it something that is usually genetically linked to women? What level of concern should we have regarding this potential birth defect in future grandchildren, in other words? Is genetic testing a good idea before he gets married and has kids or what would you suggest?Thanks for your help with this! How do I know if this question has been answered? View Answer		2006-08-14


	I have often have insomnia. One of my sons thinks he has inherited it from me. Does this happen, and can it be prevented? View Answer		2006-07-31


	I would like to know where to get information on voice weakness or a vocal cord problem..My 90 year old mother has almost lost her voice, and has been told by her doctor that her vocal cords have just deterioated. I seem to have a problem also, in getting the flem or mucos cleared from my throat. My voice seems weak and I have trouble getting my throat cleared so I can speak - have I inherited something from my mother? View Answer		2006-07-31


	my 23 yr son was dx with AS 2 years ago after a accident at work, he was electrocuted and pushed back 10 ft. into a cement wall knocked out for 30 min. , they never called 911. he started having problems after this and ever since. There is no AS in either side of his family. could the electrocution or the slamming in the wall play a factor in his AS? View Answer		2006-05-12


	Where can I find out more information about the following: Stickler Syndrome, Canavan Disease, And Mucopolysaccharidosis (MPS)? View Answer		2006-01-31


	I am a Speech and Language therapist who is about to get married to an engineer. Working with babies with cranio-facial anomalies I have become aware of the following features in my partner: (do these point toward any syndrome?) - high palate and very long uvula - depressed chest bone - very poor eye sight - narrow set eyes sometime squinting - a very small "bump" on his lower lip - a long shaped face - "big lungs" according to doctor - he is tall - 1.83m - slightly arched lower back - head shape - "cone shaped to the top" - could be because of traumatic birth procedrues. - he has had problems with anxiety and depression in the past - inconsitent stammering He is also: - intelligent - handsome looking - good social skills - healthy Am I being overly paranoid because I work with families with genetic disorders or is there any connection between these things?? View Answer		2005-11-14


	I can curl my tongue &twist my tongue.But my parents & my 2 older sisters they all couldnt. i show them how, and force them to show me, but they still couldnt know how. Would i be not my parents child? im very concerned. View Answer		2005-11-07


	I am only 4'10" (a little shorter) and i am 24 years old. Does this mean i am a midget? View Answer		2005-11-05


	My students and I would like to know how it is possible that dimples are a dominant trait, but more people do not have them than have them. We have a database of thousands and many more do not have dimples than do. We are puzzled. View Answer		2005-09-20


	I have a geographic tongue. No one in my family has it. I don't know how I got it? Also I really don't understand what it is. View Answer		2005-09-14


	If two parents are unable to curl their tongues, is it possible that their biological child can curl his? View Answer		2005-09-14


	In case of a pregnancy do I need to worry about the following genetic history:1- my aunt was born with phenylketonuria. (the only case in the entire family)2- my father's mother had the syndrome of Norrie. She gave birth to 3 boys and 1 girl. One boy was blind. The girl got two pregnancies: the first the baby was blind and had an handicap. He shortly died. She had another baby, female healthy. This female (my cousin) had 3 babies. One healthy girl, one healthy boy and one blind boy. They did genetic researchers and told them that the females from my father's family are the bearer of the bad chromosome. Can I be affected?3- My husband's sister had one child with spina bifida. The only case in the entire family.Can you please tell me if these genetic diseases can be transmitted to my child? View Answer		2005-09-14

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