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I've been troubled by a condition possibly related to spine with a lot of discomfort bordering on great distress and sometimes pain in upper back and neck. I've no breathing disoders, but can't take deep breaths, like a person of average physique. Chest expansion during inhaling is almost nil and I'd like to know if this is abnomal. X-rays and MRI were found to be normal except for an onset of mild spondylosis (both cervical and lumbar. But I don't feel the symptoms of spondylosis. I was told I didn't have muscular dystrophy. Could this be due to scoliosis, though X-rays didn't show it? Would appropriate genetic tests help. View Answer |
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My father was born with a limb deformity. His left arm is shortened, twisted and his left thumb was joined to his chest although surgery was performed to separate the limb from his chest wall resulting in the loss of this thumb. I think his heart is placed more to the right of his chest and I think he has a murmur. He also has a joint problem in his right thumb. We did not believe this condition to be hereditary and it was never really spoken about in our family. However, my nephew's wife is expecting their first baby and the ultrasound scan has shown the left limb of this baby to be shortened with possibly only one finger. I have seen Holt-Oram syndrome and have noted the heart defects with this syndrome. My 12 year old son has supraventricular tachycardia which was first noticed when he was 6 years old. Could this be connected to Holt Oram? He has no limb defect. View Answer |
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What is the life expectancy of a human being with diastrophic dysplasia? View Answer |
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2009-11-02 |
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On my husbands, mothers family they have ectoderma dysplacia. My husband was not diagonised with the symptoms, but does have thin hair. His sisters son was diagonised with the disorder. He has thin hair, problems with his sweat glands, and didn't get all of his teeth. I am wondering what the chances are of our baby having this disorder. View Answer |
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2009-10-27 |
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Hi
My husband and myself are thinking of having a child. He has Multiple Epiphyseal Dysplasia (Fairbanks type) which runs strongly in his family. He manages to live a normal active life although his sister is much more seriously affected. I understand the chance of our child having the disease is 50%. Can I be tested to ensure I am not a carrier? Can the fetus be tested? What other options are open to us to give us the best chance for our child? View Answer |
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2009-10-13 |
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Is Kniest Dysplasia a type of Spondyloepiphyseal dysplasias? If not what is the difference? Been told I am SEDc but saw the stuff on Kniest and my traits are more like this. View Answer |
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2009-10-09 |
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My son has been detected to be having Multiple Epiphyseal dysp. thru X-rays. He has slight deformity in hip joint, he finds difficulty in walking (abnormal gate- waddling gate, does not transfer full weight of body on toes while walking, cann't do jogging),difficultyin climbing stairs. He is now 11 years old and his height is 126 cms and weight is 21kgs. His diet is less and digestion is also weak. It was detected at the age of 4 years. The weakness of muscles is slowly increasing. His fingre joints (PIP) are nobby. He is under physiotherapy, but that is helping just a little. Can u pls. suggest any remedy and medicines to correct above. View Answer |
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2009-10-08 |
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my future husband had a brother that died from Jeune"s Syndrome so we know his parents had the gene. We have yet to go thru testing but if no one on my side of the family has ever had a "problem" with this can that mean that its not prominent in my family and me?
Thanks for the help View Answer |
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2009-09-16 |
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About 38 years ago I delivered my first child, a Thanatophoric Dwarf who died hours after birth. At that time, I was told by a geneticist that this was a mutation and that I should not worry about it happening again. I now have two children but did have two miscarriages. Now I am concerned because my son and his wife are expecting their first child. What are the chances of this baby being a Thanatophoric Dwarf? View Answer |
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2009-09-12 |
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Is there a test I can do to see if I carry the gene for Spondyloepiphyseal Dysplasia? If so where can I go? I plan on having a baby and I just found out that my twin sister's daughter has this condition and it also runs in my mothers side of the family. Also if you have any advise on what treatments we can do for my neice please tell me where to go. This new news about her is hurting my family and we need all the advise we can get to help in the matter. Thank you! View Answer |
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2009-09-11 |
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I have a 9 year old daughter that was diagnosed with SEMD. A DNA test conducted by the Tulane University proved this. She wears glasses. However, upon having her hearing tested (due to behavioural problems) it has been found that she is completely deaf in the right ear and has moderate hearing in the left. A CT scan was conducted and there is no visible damage in her right ear, yet it is deaf. She is a patient at Shriners Hospital (has two 8 plates in her knees). I would like to know if this condition is related to the SEMD. I am also interested in having an MRI done to check if her brain has anything negative going on. She is highly intelligent and is in a GATE class, however, her behaviour is very questionable and I want to eliminate any possibility of something physically going on with her causing her to behave the way she does. Perhaps you know of a physician in the Sacramento area that specializes in this condition. Any information would be very valuable. Thank you! View Answer |
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2009-09-08 |
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I work for Cytonet, we utilize non-transplantable livers, extract the hepatocytes and infuse them into children suffering from Urea Cycle Defects. My question is, does this disease, thanatophoric dysplasia, affect the liver? If so how? View Answer |
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2009-09-03 |
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X-linked spondyloepiphyseal dysplasia tarda is the condition my father has, i recently saw a genetic councelor and as i have had back and hip pains she sent me to have an xr skeletal x-ray done which i had this morning. she told me that it is very rare ut its happened before that some females have een slightly effected y it? do you think it may be this which has effected y back and hip?? View Answer |
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2009-09-02 |
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I am 17 years old and pregnant, I have cleidocranial dysplsia. I am wanting to know how likely it is that my baby would inherit this condition? View Answer |
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2009-08-14 |
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1.What is the differential diagnosis of Czech Dysplasia?
2. what other conditions cause or have short third and fourth toes? View Answer |
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2009-08-12 |
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How would i go about checking my 21 year old daughter for dwarfism? What type of doctor? could this be a genetic issue?
Thank you View Answer |
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2009-08-06 |
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I have a 15 years old son who has diagnosed with SEDL. It is rather sad for me as a father who is 6'2" tall, and he only has 4' 4" approx. We are still hoping him to grow taller. But the doctor said they cann't do anything. I still feel that they must be a way to let him gain extra a few more inches in height in the next one or 2 years. He is very desperate to gain height, and feel very sad of himself. As a father I really sad for him.Is there a way this can be done? View Answer |
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2009-08-06 |
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A friend of mine has a nephew who has just been diagnosed with spondyloepiphyseal dysplasia tarda, which is normally inherited as an X-linked recessive condition. Her sister may be a carrier, and if she is then it also has implications for her being a carrier herself. She would like to know what the chances are of this being a spontaneous mutation in her nephew? Is there any way of finding out this information? As far as I know there are no other affected family members.
Thanks,
Anita View Answer |
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2009-07-21 |
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My son was born 29 1/2 years ago with bilateral clubfoot deformity. He was cast for his first year of life and his deformity was "fixed". As he grew he had Severs disease in grade school. He has back pain for the past ten years, and has been treated on and off with a variety of techniques, none seeming to work. He is now addicted to pain medication. Finally one of his doctors had another x-ray taken, although many have been taken and several MRIs over the years. This doctor had him bend during the x-rays and has given us no hope of the surgery my son hoped would "fix" him once more, but was told he has spina bifida occulta and will need to undergo progressive rehabilitation. I was just wondering what the genetics of these three disorders/disease are and the frequency of their combination in individuals. View Answer |
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2009-07-19 |
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Hi. My family has a deformity of our fingers and toes, going back though countless generations, and i'm interested to know the cause and name if any that is given to this. It shows up as missing digits in all fingers and toes, and always looks pretty much the same. The deformity never skips generations, and women seem to pass it on more than men. Because it never skips generations i seem to be the last in line, though there could be other distant relatives with it. I've never met anyone outside the family who has this, and there are no other symptoms. View Answer |
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2009-07-04 |
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I have the diesease Multiple Epiphyseal Dysplasia Bi-Laterally. My wife is pregnant and I am wondering if I will pass this onto our baby. MY dad has Club foot. That is the only way that I know that I got the disease. Any information that you can provide will be greatly appreciated. View Answer |
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2009-07-04 |
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My son is 27 years old and he was born with Multiple Ephysial Dysplasia BiLaterally. I believe this to be a genetic result of his father's club foot. He has suffered for years with knee pains and the early on sight of arthritis. He is very short in stature. He married 2 years ago and they have just found out that they are expecting their first child. Since this is an inheritaed disease, is it likely that this will be passed on to their child? Thanks. View Answer |
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2009-07-02 |
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My younger brother has diastrophic dysplasia and no one else in my family has this disorder. I have had arthritis since the age of 13 and wonder if is realted to the my brothers condition.
Also, do I have a chance of having a child with this disorder? I'm a 28 year old female. View Answer |
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2009-06-26 |
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Here is my situation, we're adopting a healthy baby from a beloved birth mother. The birth mother's biological sister is a little person with Achondroplasia. As far as we can see the baby is completely heathy in every way. Would you recommend seeing a geneticist and having the baby (at a later age) be tested for a carrier gene of Achondroplasia? What are the possible risks? We'll be adopting the baby no matter what; we love her already along with her birth family. We're just trying to be educated, wise, and proactive.
Thanks View Answer |
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2009-06-22 |
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Hi,
I was induced to have my daughter early as the doctors said she was not growing well inside of me and would do better on the outside. She was born at 33 weeks and weighed 3lbs 13ozs. She had surgery the day after she was born for a blockage in her intestine. She is now coming up on her 4th birthday and weighs 22lbs and is just under 3 feet tall. She is a very petite girl, even her head, but everything is in her proportion. One of her doctors, consulting pediatrician, mentioned last year she could have Russel Silver Syndrome (form of dwarfism) but said there is no way to test for this and has never brought it up again.
I feel that we are getting nowhere with the doctor and she brushes it off anytime I ask her anything about it. Is there a way we can find out if she has this syndrome/ dwarfism? View Answer |
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2009-06-14 |
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hello,
I'm writing a paper for my biology class about HME/MO,
one of the things i need to read about is if there is a remedy for HME/MO, i searched in books and on the internet but i couldn't find anything helpful, is it true that there may be no remedy for HME/MO? and is there any way to prevent it form happening?
View Answer |
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2009-05-31 |
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does pheiffer syndrome afect any group of individuals more frequently? View Answer |
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2009-04-15 |
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Hi,
MY wife and I went through a difficult time and lost a baby this past july. While the cause is still unclear, she suffered hypoxia during pregnancy and there was not a sign of any problem during preganancy. In any case we also found out that we have a gene in my wife's side that causes frontometaphysial displasia, and some of her family member exhibit this condition and it was passed on to our baby. According to the doctors there is a 50% chance in any birht that this condition will happen again. IS there something that can be done to avoid this condition? PDG with IVF ? The doctoros say it was not directly related to the death of my baby, but I don't know if I am 100% convinced of that, in addition , I don't believe I am strong enough to lose another child so if there is a way to avoid this I would love to know. View Answer |
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2009-04-14 |
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My daughter is 13 years old now and finally a doctor gave us a diagnosis..hypochondraplasia but it is too late to do anything? I have been going to doctor after doctor with my concerns of my daughter... delayed ambulation, weakness and decrease strenght with fine motor skills, difficulty opening doors, tieing shoe lace, zippering, buttoning her coat. Excessive sweating of hands and feet,learning disabiliteis, unable to ride a bike etc.. I was told she may have Turner's Syndrome and for years of testing and f/u with doctors and being told not sure but now she is 13 and it is too late to do anything? Is it? She walks on her toes and her heel chords are tight,,, what do I do for her?She is a go getter and nothing keeps her down.. I just want help.
Concerned mother on a long journey View Answer |
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2009-04-04 |
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Thank you for your assistence, wich I could not achieve by ohter means
My Father is about 150 centimeters high, I am 170 cm. My child is 120 cm high and 9 years old, afected by hypochondroplasia. Her Mother is 172 cm high, and all her parents are 180 or above.
What could I expect about the final Height of My Doughter ? We would be Grateful by a estimate.
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2009-03-23 |
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My fiance has Kyphosis (Curve to the back) and his Mother and her Mom also have it. His back does not look bad now, but it is something that can get worse over time. I've also heard that it is more common in girls. My back is normal and no one in my family has this condition. For my fiance, it is just the three of them that have it. We want to start a family in a couple years and I would like to know what the chances are that our children will inherit this back condition? Thanks. View Answer |
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2009-03-14 |
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I have identical twin daughters. I know they are identical because they were mono mono twins. One of my daughters has polydactyly of both feet, and one does not. How can this be? View Answer |
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2009-03-13 |
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Our daughter has just been diagnosed with Saethre-Chotzen syndrome.
Can you tell me what kind of congenital heart defects that sometime affect people with this diagnosis? I have read that ASD can be one of them. Is it relevant to have our doctors perform an eccocardiography?
What else is relevant to test for except for hearing loss and problems with eyesight.
I look forward to hearing from you View Answer |
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2009-03-12 |
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hi, im currently doing my studies right now entitled Nutritional status of filipinos with achondroplasia, i would like to ask if there has been established standard BMI, indeces in assessing the Nutritional status of an adult with achondroplasia..thanks View Answer |
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2009-03-11 |
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In 92 my son had surg for craniosynostosis @ 6wks old. 6mo later his head sealed back up again. He had no mental deficientcies or other surgs. When he was about 5yo we noticed that his thumbs were wider than what seemd proportnt. We didn't think much of it. I decided to look up big thumbs & eventually found Pfeiffer Syndrome 1. We've had him in a few times for reoccuring headaches & we've even seen a new pedneuro surg. Of the 5 drs that we've seen over the past 16 yrs not a one of them has ever mentiond P.S. I realize that it was 1st reportd in 64, & isn't that old, but it's hard to believe that no one thought of it. I'm adoptd & I only know that my bio mom was Mex & dad believd to be Scott or French. My Husbd is Germ & Eng,Dutch,Cherokee. Since Pfeiffer sounds german, is it likely that if it was inherited & not a mutat, that it could've come from that branch of the family tree? (That side also had Parkinson's. The Eng. side had Meneir's syndr. Whether that means anything or not.) View Answer |
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2009-02-27 |
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My son, now 9 years old, was born with mirror image poly/ syndactily on both hands and feet.
On his hands, the ring and middle fingers are joined by soft issue on the right hand and the same on the left (except on the left hand in the fingertip area the bone in fused). On each hand there is a pea sized ball of flesh dangling from each pinky. Within each little ball is a slight indentation and imprint of a tiny fingernail.
On his feet there is an extra big toe (just to the inside of where the regular big toe is located). The extra big toes are connected to the foot by soft tissue only (although there is bone within them). Also, all the toes on each foot are webbed except for the pinky toe.
I am wondering if this is a marker for anything else with my son or future children. View Answer |
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2009-02-26 |
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Hi, I am a 33 year old woman with SEDc. I just read that people with skeletal dysplasia go through menopause early...as early as 34. Is this true for women with Spondyloepiphyseal dysplasia congenita? Any info is appreciated!! View Answer |
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2009-02-17 |
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Several of my family members (siblings, Mother, cousins) have an extra bone protruding from the roof of our mouths, as well as bony ridges along the bottom behind our teeth. I heard this could be a Native American characteristic, and wonder if this is true? View Answer |
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2009-02-15 |
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My stepson has Baller-Gerold Syndrome, and has some autistic tendancies as well. I have no idea what the life expectancy is for someone with this syndrome and the many conditions that come along with it. He's mentally impaired, physically impaired, but has a very sweet spirit and is a very sweet young man. I ask about life expectancy because I can find no information about it. The syndrome is rare and maybe there aren't many cases documented. But do you know what the life expectancy is? View Answer |
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2009-02-08 |
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My brother has had 5 surgeries on his face to remove cherubisms and his were in his cheek area. He is now 35 and his last surgery was about 4 years ago. What is the likelihood that this will return again. View Answer |
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2009-02-07 |
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I am 31 years old. My grandmother, my father, my brother and I, all have Multiple epiphyseal dysplasia. My husband and I would like to have children. Is it genetically possible to prevent my child from inherting MED. Is preimplantation genetic diagnosisan option? View Answer |
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2009-02-06 |
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Hello. My husband and I would like to begin having children in the next year or two. He is 29 and I am 32; we would like up to 3 kids. His Dad has 2 brothers with Achondroplasia; however he (my husband) and his sister are normal; as it their Dad. What are the chances of my husband and I having children with this disorder? Should we get genetic counseling b/4 having children? Any advise and expertise you can provide will be most appreciated. Thank you very much. Oh and the Dad's parents were normal; however both contributed to the disorder from my understanding. View Answer |
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2009-02-02 |
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my son was born with 2 missing toes on his right foot. and having to wear a 2" lift. the only genetic condition i have noted that " my uncle's daughter born with a little tiny thump, sticking out of her normal thump.= to six fingers on her left hand" does this have anything to do with my son condition? what is the chance of me having a nother child with the same or worse condition? will my son children inherit his condition?
note: all 10 of us brothers and sisters were born with normal condition. as well as my husband's family. please help. thank you View Answer |
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2009-01-22 |
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Our infant's unconfirmed diagnosis is lethal kniest dysplasia, surviving 30 days from birth. Would exposure to toxins such as depleted uranium, petrochemicals, pesticides and insecticides, such as "DEET" and "permethryn", other forms of radioactive material, nerve agents, such as "sarin", chemical agents, such as "mustard," vaccinations, such as "anthrax," or a combination of any of the above lead to a translocation or deletion, spontaneous mutation? And what risk factors exist for individuals of having the above exposures to having future children with uninherited birth defects? Are there test that can determine if this exposure will likely predispose genes to such mutations? View Answer |
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2009-01-20 |
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I realize this isn't a serious health disorder, but I have crooked pinkie fingers as do many of my family members going back at least to my great-grandmother. I'm not sure which family members prior to her had them. Where could I find information of this hereditery anomaly and its history or origin. Thanks so much View Answer |
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2009-01-11 |
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i have polydactyly in both hands and both foot.I want to marry to a normal girl.What is the probability of having polydactyl child?
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2008-12-15 |
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I am a sixth grade teacher currently teaching genetics. My students are very interested about Little People Big World, I have had the infinite questions of "If I have... why do I have... Is it possible..." If dwarfism is a dominant trait over average height, how did Amy and Matt's parent (who are both average height) each have a dwarf child. I am trying to figure out a Punnett Square to answer their question. I get that if Matt and Amy are heterozygous for the trait they can have average height children, but I can not explain how they have dwarfism if their parents are averaged height. Are there more thatn one allele that controls this trait? You can't be a "carrier" of a dominant gene, with out showing that trait, can you? Please help?!? View Answer |
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2008-12-05 |
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i have found on the internet that there is the lethal skeletal dysplasia Thanatophoric types 1 and 2 but that there is also a Glasgow variant, I have been trying to get information on this one but cant seem to find much. Have you got any information that you could give me on this condition and recurrence rate. Thanks. View Answer |
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2008-12-03 |
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my sister has a 11 mounth microcephaly doughter . she had done all of examination ( until genetic) but the doctors did not undestand any factor for her disease.please guide me is there any drug for this deseae? View Answer |
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2008-11-24 |
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Hello,
I am a junior college student studying achondroplasia in a genetics class that I am taking. I was hoping you could explain to me how the mutation in the FGFR3 1138G-A nucleotide actually transpires or takes place. What actually causes the mutation to occur? View Answer |
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2008-11-13 |
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Hi, we recently had to terminate a pregancy at 21 weeks as when we had our scan it showed a severe skeletal problem where the femurs where bowed and also bowing in the arms, the legs where measuring at 16weeks instead of the 20 weeks they should have been. There was also abnormalities in the ribs. We are currently waiting on the post mortem results but are finding this wait very stressful. What skeletal dysplasias have the characteristics of bowing of the long bones? There is no family history that we know off and we have a healthy 3 year old girl together. Our biggest concern would be if this could occur again in a future pregnancy? View Answer |
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2008-11-10 |
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My father was a dwarf. My partner and I are now having our first child and she was concerned that our baby could potentially be a dwarf. I was told that there is a one in four chance that this could be. She is concerned for the troubles a dwarf has to go through throughout life. Is my partners concern for these odds justified or have the statistics for our child becoming a dwarf justified? I would like to know more information so as to prepare for such an event. Either way our love for our baby will remain the same. View Answer |
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2008-11-03 |
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I have a 25 year old son that was born with a complete complex syndactyly of his left had. He was missing the thumb digit the other digits were shorter. His wrist is smaller than normal. He has had 3 surgeries to create a useable hand.
We have not had anyone else in the family with this condition.
Is this considered a true genetic disorder?
Will genetic testing give us any information as to what his children chances are of having the same problem? View Answer |
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2008-11-02 |
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I am a 30 yr. old female (5' 2") whose brother (5') has previously been diagnosed with hypochondroplasia. Considering the diagnosis was made with the medical knowledge of 15-20 years ago, only one Dr.'s opinion was obtained, and my brother appears to show no symptoms other than shorter limbs, it's hard to be completely confident in that diagnosis. My parents are are short (5' 1" and 5' 9") and, though I've never considered their stature abnormal or having dwarf-like attributes, they haven't been genetically tested to verify neither is affected. My question is, to determine the likelihood that I may pass a form of dwarfism on to a child, is there a genetic test I can take singularly or would my parents also be required to go through genetic testing for me to know the probability? View Answer |
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2008-10-29 |
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I have Diastrophic Dysplasia and we think my husband could have Recessive Multiple Epiphyseal Dysplasia - will we have dwarf babies or is there a possibility of average sized children? View Answer |
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2008-10-07 |
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My son is 6 and has Pfeiffers Syndrome, Type 3. Over the past 6 years he has undergone numerous surgical procedures ranging in difficulty from crazy scary to fairly routine. Today, he has stabilized and has started the 1st grade. Despite his severe to moderate hearing loss, trach., g-tube, and shunt he is doing very well. He has recently been given special privileges by the school to study 5th grade material because he is bored in class. When they take a test in his class he finishes well in advance of the other kids and the nurse that sits in the back of the classroom says that he sometimes corrects the teacher. His teacher last year had issues with Braden for the same reason. Also, he is the youngest kid in the class. I do not have another child so I do not have anything to compare him too.
My question is whether or not Pfeiffers syndrome can, or has been shown in some cases, to actually enhance intelligence?
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2008-10-01 |
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Hello, I gave birth to our first daugher, on 8/30/87. She only lived a few short hours. She had been diagnosed via US at Einstein Med Center the week before with Thantophoric Dwarfism, a rare but deadly disorder. A spontaneous gene mutation they told me. I only had 2 polaroids of her after birth, but I know there was a medical photographer that took pictures of her also. Now I am down to only one photograph of her, she would have been 21 this past month. How do I find any published pictures of her? I assume they would not have a name, but maybe the date of birth? I have looked all over the internet, and I am so desperate to find her picture. I will know her if I see her. She was beautiful in MY EYES, as I held her after her birth and shortly before her death. I held on to her so tightly, and I cry still as I write this. View Answer |
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2008-09-20 |
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What are the probable causes of gene mutation that would result in the birth of a child with Thanatophoric Dysplasia? What are the odds of that same mutation repeating in subsequent pregnancies? I am a 51 year old male. My wife is 35 years old. We have recently suffered the loss of our newborn child due to this condition. We have been informed that a gene mutation on my side is the most likely cause. I am most concerned with the odds of this happening again. View Answer |
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2008-08-29 |
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I am 44 yrs old. I have hypophosphatasia. I have fractured both femur bones and fractured both hips. I have rods in both my femur bones and both hips have been replaced. I just had my left hip replaced and the surgeon lenghthened my left leg so now I am finally even length wise. I was FINALLY starting to feel good and learning to walk without a cane. I have now developed knock knee. I always had a little bit of knock knee before but it seems since I had this last hip replacement, my knee has gotten worse. It's so bad now that I am having a hard time walking. Do you think the knock knee stems from the hypophosphatasia and is surgery the way to fix this? Do you think a total knee replacement would correct the situation or is there some other kind of correction of this problem without surgery? View Answer |
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2008-08-20 |
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My father, two of his siblings, myself and my son have Hereditary Multiple Exostoses. I know that it is a 50% chance to pass it on if you have it. What are the chances of my two daughters that do not have HME passing the disorder and their children passing it and so on.
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2008-08-16 |
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My granddaughter has extra bone growth in her thumb, knees and ankles. She is 3 and her doctor wants to remove the thumb growth next year. Is this wise given some of the things I have read saying surgery could promote more grownth. Her father has what he calls "bone spurs" all of his life and has joint pain, and had one removed that was causing nerve pain. For the first time someone has put a name to it, but the doctor called it Myositis Ossificans, inherited from just one parent. Should her activities be limited and should she have the surgery? View Answer |
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2008-08-09 |
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Hello, I had an Uncle on mother?s side who suffered his entire life with osteogenesis imperfect (brittle bone syndrome). He died at age 52, although the cause was lung cancer. I am trying to figure out if what is wrong with me is related to what my Uncle had. No doctor has been able to diagnose me and I am not sure what I may be genetically pre-disposed to because of my family history. I am 36 years old and have confirmed (x-rays) arthritis in my hands, wrists, knees and spinal joints. Tests for RA and Lupus so far are negative. As a child, I had multiple surgeries on my legs between the ages of 2 and 5 to straighten my legs, which when I was born were turned inwards at the knees (tibial torsion) and hips?after that, I wore leg braces until age 9. I was also diagnosed with scoliosis at that time, but it was not treated as I refused another brace. All of my joints are extremely hyper-mobile and many bend inward or backwards. Is there anything I may be genetically pre-disposed to? View Answer |
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2008-08-08 |
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My 3 cousins have Malignant Hyperthermia Suseptibility, all had the muscle biopsy and tested positive. Their mother tested negative and their father will not be tested. He is my mother's brother. SHould I be tested for this? or could I wear a medic alert bracelet which states that there is a family history of it? I have heard that the tests can be incorrect which makes the muscle biopsy pointless surely?
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2008-08-04 |
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I have a patient that is pregnant and the father of the child has SED, which places the risk of the fetus at 50% chance of having the disorder. The ultasounds have been normal. My question is can this baby be delivered vaginally or should it be delivered by cesarean section because of the chance of inheritanc and the associated axial instability. View Answer |
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2008-07-27 |
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My question is more for my moms benefit. I am 20years old and am 4' 11". She thinks that I would be what is considered Hypochondroplasia dwarfism. however ive never been diagnosed or told this. I do have shorter limbs although i do not have broad short hands or feet. i mean my hands and feet are pretty small. my shoe range from a 6.5 to a 7.5 and wider shoes tend to fit more comfortably. What do you think? View Answer |
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2008-07-24 |
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MY grandaughter, has growth delay ,dismorphic features,a bell shaped chest, high arch pallet ,missing clavicles, scaphocephally, congenital dislocated hip,hypoplasia, smooth philtrum. our cranio facial team clinicaly diagnosed cliedo cranial dysostosis,but our genetacist does not agree with the diagnosis. I am not asking for a diagnosis but is it possible for her bone and muscle to be caused by a liposomal storage disease,such as MPS/h-s,her gag test showed no gags in the urine, but no blood test has yet been done.
The peadiatrition said her bone problems are not primary.
I would appreciate any advice. View Answer |
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2008-07-21 |
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What metabolic and endocrine problems come with having hypochondroplasia? My son was just diagnosed with this and I am now being tested. He is short in stature with broad hands and feet and I have many family members who have died at my age (37) from a variety of causes. Most include the liver and pancreas, but no one who died were drinkers. Also, what is the hand spread with the pinkie...I haven't found any info online to link that with how they diagnosed my son and most likely me? Our pinkie fingers have a slight webbing and they spread further than most people. Our geneticist informed me of this. Last question....is growth hormone the treatment of choice for my son (age 8) and what are side effects of messing with Mother Nature? View Answer |
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2008-07-08 |
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My daughter was born with ulnar hexadactyly on one hand (a sixth finger presenting as a skin tag).
#1. Is this a genetic trait carried in me or my husband? what are the chances of this happening again?
#2. Is this a dominant genetic trait that my daughter carries and how will this effect her children?
#3. Her extra finger was easily removed, but can any of our future children (if genetic) have this birth defect manifest itself worse than a skin tag or is that the genetic presentation that is carried?
Thank You. View Answer |
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2008-06-17 |
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I read a 2004, 2 page study on Cystic Hygroma that was written by somone from the Genetics Divison at Emory. I found it very informative as my 1st pregnancy (female fetus; induced at 24 weeks) had this.
I was wondering if you know of any similar studies on arthogryposis as during my 3rd preganancy my child was diagnosed with this (again a female fetus; induced at 21 weeks).
In addition, do you know of any correlations between the two birth defects? Thanks, Christel View Answer |
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2008-06-04 |
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My husband has cleidocranial dysostosis and our son does not. Our son is expecting a child and we would like to know the risk of his baby having this disease.
My husbands family both paternal and maternal can find no other family members with the disease. He has 3 brothers none of which have the disease. In researching I am assuming that his was a mutation that was a "fluke" any information or guidance or suggestions that we could give to our son and the mom of the baby would be greatly appreciated View Answer |
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2008-06-04 |
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I am currently 36 weeks along and was told at around 27 weeks that my baby has a lethal skeletal dysplasia. The characteristics are extremely shortened long bones and a small thorax. at my last u/s the baby's abdomen measured 30 weeks and the head 35 weeks. the chest measured 28 weeks. Can you tell me where I can find growth percentile charts online. I just want to understand why the gap seems to be bridging. The chest was at one time greater than 10 weeks behind. View Answer |
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2008-06-03 |
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What is broad thumb syndrome? View Answer |
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2008-06-03 |
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My sister is 25 years old. At 15 she had a bilateral triple arthrodesis because joint tissue in her feet deteriorated and her bones formed coalitions below the ankle. It happened in 9 places in 1 foot and 7 in the other. She has been diagnosed with PCOS, Degenerative Disc Disease and was previously prediabetic. Recently the doctors gave an MRI to search for problems in her neck and spine causing numbness in her arms. The bottom half of her heart beats faster than the top causing chest pain and discomfort. Her tonsils were removed because they had begun to deteriorate. The tissue was dying. Her triponin levels are elevated every time they check them.She has prematurely graying hair. Perhaps all of these problems are interlinked and possibly caused by a gene mutation? All of these problems began at the onset of puberty. Could their be a disorder that links all of these? They keep telling her she is a medical anomally and these things aren't normally seen at such a young age. View Answer |
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2008-05-29 |
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My son was 1 on May 10th, 2008. His height and weight are in the 24th and 25th percentile but his head is in the 92nd percentile. The drs. are talking about sending him for genetics testing because of this. They have used the term 'Dwarfism'. Is there anything we need to be concerned about here?
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2008-05-27 |
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I recently vsiited Zambia and came across some children with a genetic disorder which affects the feet and hands and eyes. they have just 2 poorly formed toes and one or two poorly formed fingers. Their eyes display a continuous movement. The children are unable to wear shoes because of the abnormality. Can you tell me what it is called please? View Answer |
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2008-04-19 |
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I am an occupational therapy student working in an outpatient pediatric center. I have a 18 month old child who has many symptoms and physical features that resemble achondroplasia. The child is the size of a 6 month old, has short upper and lower extremities, and a large head and distended abdomen. He has several developmental delays (i.e. is unable to crawl, delayed grasp patterns etc), and has very similar facial features that resemble some forms of dwarfism ( large eyes that cross fairly often with a wide nasal bridge, lower set ear lobes etc). The family recently had some blood work done on their son at a geneticist to test for various genetic disorders but no one has mentioned dwarfism to them nor thought of it as a possibility which seems absurd to me. Do you believe this could very possibly be a form of dwarfism, and if so, do you think it is necessary to contact the child's pediatrician or geneticist to talk about this possibility? View Answer |
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2008-04-02 |
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ive just found out im pregnant but one of my friends has told me that the fathers brother and sister both have dwarfism (im sorry i dont know the correct condition). He is not affected by this at all, will my baby be born with this condition. ive asked the father if there are any family medical conditions and he said not but my friends are close with him and knew him before i did. can i get a test done in early pregnancy to detect this? View Answer |
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2008-03-22 |
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Can spondyloepiphyseal dysplasia congenita cause a spiral fracture to the humerus of a two-month-old infant? View Answer |
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2008-03-17 |
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okay, i have dwarfism.. the type of dwarfism i have is SEDC and i was recently diagnoised with gallstones. I am getting ready to have surgery to have my gallbladder taken out but the doctors have some concerns about doing the surgery because during the surgery they have to put a ventalator down my throwt. My question is.. given the the type of dwarfism i have and the way my body is, do you think they will have any problems doing this?? how i'll handle the ventaltor is the doctors main conern.. Thanks!!:) View Answer |
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2008-03-15 |
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My daughter has short wide thumbs. They look as though the thumb nail is right on top of the joint. She has no other apparent anomalies.She is now of child bearing age and has done some research as they have always bothered her. She found several syndromes that included broad short thumbs. Does she have any need for concern or for genetic testing before becoming pregnant? View Answer |
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2008-03-11 |
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Does Achondroplasia occur more frequent in a certain population? Certain ethnic background(s)? View Answer |
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2008-03-06 |
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Son is 16, about 6'tall. Born with index finger and thumb not bending. Abnormal growth on these digits. Has had begin tumors (aggresive type of fybromytosis) on them and amutations in past two years. Does this sound like epithyseal dysplasia. No other joint problems in him or family.Never been given diagnosis or genetically tested. View Answer |
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2008-02-14 |
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My grandson was diagnosed with skeletal dysplasia at 20 week scan - thought to be achondroplasia and not lethal form. He was born full term with breathing problems and only lived 5 hours. Post mortem suggests either Kniest or SEDc. Baby's father is 29 years and 5ft 2". He was born slightly club footed and had problems with glue ear at age 4 which needed tubes. Since that operation he has been deaf in one ear - hearing normal in other. He had three operations in childhood to straighten bones in right foot which curled inward. For last 8 years hes had severe arthritis in that ankle. Eyesight fine. His wife is average height. Because of my son's symptoms, it has been suggested that he carries the Kniest/SEDc mutation and that he may have gonadal mosaicism. Because baby was very severely affected they are being told that future children may also be. Can they have more than 1 in 2 chance of their next baby being affected? Are there tests to help them decide whether to try again? View Answer |
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2008-02-13 |
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Hi,I have a friend who has Syndactyly(?).Which gene's mutation is known for causing the deformity?
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2008-01-16 |
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I am a 39 year old male with two "wide thumbs". I spoke to my father at Christmas and we discussed family members who also had wide thumbs and I was surprised to find that it had skipped my brother and sister (no wide thumbs), but my deceased grandfather had one of them, and my great-grandfather had two (my father has two as well). According to the Genetic Home Reference website, Greig cephalopolysyndactyly syndrome is a genetic disorder. Can you give me more information? Is this something bad? I always assumed it was just a normal genetic difference like eye color, but further research and the term "disorder" gives me pause. View Answer |
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2008-01-08 |
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My daughter was diagnosed with 'short limbs' in utero and is now 3. She is advanced developmentally and has no health conditions. She has always been below the 1st percentile for height. We have seen geneticists as well as an endocrinologist who believes she has 'idiopathic' short stature. We have recently tested for absence of SHOX gene and are waiting results. Does the absence of this gene always indicate Turner's or can someone not have this gene and not have Turners? What other diseases can be indicated by absence of SHOX? View Answer |
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2008-01-08 |
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Is there a correlation between Pfeiffer's syndrome and dwarfism and death at an early age? View Answer |
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2007-12-22 |
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My daughter was diagnosed with Hypochondroplasia when she was six years old. She is now 10 years old and is starting to have problems in her hands. She has never been able to make a fist but now her hands are starting to hurt and the joints in he fingers will lock up. Is this part of her diagnosis and if so is there anything besides physical therapy (which we have done) that could possibly help her. View Answer |
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2007-12-18 |
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Can a genetic test be performed to determine if a child has achondroplasia and hypochondroplasia? Thank you. View Answer |
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2007-12-15 |
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Who first discovered Osteogenesis Imperfecta? View Answer |
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2007-12-05 |
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hello i was woundering my sister has OI and i have loss of teeth. the doctor told me that im carring it, my boyfriend and i wanted to have a baby and i have tried before but never got pregant if you are carring it can it affect that? View Answer |
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2007-11-27 |
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My biological sister and I have children that have the "common thread" of microcephaly. We have all had genetic testing and nothing has been discovered. My sister's two children have also been diagnosed with Cerebral Palsy. My son has autistic tendencies and an awkward gait but has never been diagonsed with anything but microcephaly. My mother, myself and my oldest daughter have small head circumfrences but are not classified as microcephalic. My daughter is average and normal in intelligence with ADHD. My sister has a middle child that is normal with extreme ADHD as well. Any thoughts on the chances of this all being in the same family, but NOT having a genetic link???? Or have they just not discovered our "syndrome" yet????? View Answer |
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2007-11-19 |
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I am in my mid twenties and have hypoachondraplasia. Is this treatable in anyway thru injections etc. I was born with this and am roughly only 140cm tall. View Answer |
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2007-11-15 |
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what type of mutation causes dwarfsim? View Answer |
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2007-11-15 |
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My wife is pregnant.The child has been diagnosed with a lethal condition most likely to be thanatophoric skeletal dysplasia during an ultrasound exam by a fetal medicine DR.We refused termination.We were sent to a different hospital when we asked for a second opinion where they confirmed the lethal condition and they sent to us to a genetic counselor who strongly recommended us to do a genetic test through cord blood when the baby is delivered.
Despite talking to our genetic counselor,our OB DR who works under the first maternal and fetal medicine DR is very reluctant to do genetic tests stating that they do not think it is going to be of any use as the diagnosis has already been made.
We are upset and worried about the OB DR trying to defend her and her boss`s position on genetic testing .
We would like your opinion about how to talk to this DR without being argumentative or are we unreasonable in insisting on the genetic tests?
Thank you. View Answer |
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2007-10-20 |
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Is joint or ligamentous laxity common in children with achondroplasia?
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2007-10-14 |
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My husband was born with short stubby thumbs, sometimes referred to as clubbed thumbs or toe thumbs. I was just wondering why this occurs and what are the chances that our children will develop this? Also, if our children do develop this will it be noticeable at birth or as they grow older. Thank you. View Answer |
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2007-10-08 |
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Hello, My sister's child has mild hypochodroplesia. So, that makes me her aunt. I am planning on getting pregnant this month, and my question is, should I get tested for this condition? Would there be a chance that I would carry this gene? Pls advise.
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2007-10-05 |
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I heard that people with Achondroplasia their eardrums can collapse. Is that true? View Answer |
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2007-10-04 |
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What is risk of Thanatophoric dysplasia in the fetus?Earlier this year, my wife and I decided to have a pregnancy terminated as scans at 20 weeks showed severe skeletal dysplasia - the diagnosis at the time pointing towards Kniest syndrome. However, the post mortem analysis and tests showed thanatophoric dysplasia type 1. We have been trying to find out what the statistical risk for thanatophoric dysplasia actually is. We have seen numbers of 1 in 10.000-30.000 live births , but all statistical data seem to focus on live births. We assume that a fairly large part of the cases - where this is diagnosed antenatally - would end in a termination of pregnancy (or if pregnancy goes to term - a still birth). Therefore, we would like to know if there are statistics available for the total risk of thanatophoric dysplasia occuring in a fetus i.e. the risk expressed not just for live births but for pregnancies as such? View Answer |
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2007-10-04 |
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My boyfriend has Recessive multiple epiphyseal dysplasia. I cant find to much about it. He is 31 and has been on dual crutches since the age of 16. He is about 5ft tall and is quite hunched over. He recently lost the ability to put his own socks on. I want children and want to know the chances of passing this on? View Answer |
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2007-09-27 |
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I am a Grandmother of a couple who just found out they are going to have a baby that has thanatophoric Type 2. The Doctor said it was inherited. Any reading we can find say it is a mutated gene and probably wouldn't happen again. Would like to know if it is inherited as at the moment they are devastated and it would help if they thought they could have a healthy baby in the future. View Answer |
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2007-09-21 |
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My son was born with Polysyndactalysm. 6 fingers on each hand no bones, and six toes on one foot. He seems to be developing on pace although his language seems delayed and he at 15 months only has 3 teeth. he doesnt seem to have any noticable abnormolaties aside from the webbed toes (all except the pinky toes).I am wondering if his Polysyndactalysm might be indictative of any other syndrome?? View Answer |
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2007-09-19 |
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How early in pregnancy can it be determined if the unborn child will have Pfeiffer Syndrome? Also, how helpful are the blood test prior to marriage in determining potential problems/deformities of possible children based on the blood work? I ask these questions hoping this help in making the proper choices as it relates to having children. View Answer |
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2007-08-24 |
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Hello, I have a 8 y/o son who has Multiple Epiphyseal Dysplasia. I found out when he was 3 y/o. I have no understanding of this condition and I haven't been able get any help with it. He is in alot of pain and I don't know what to do. Is this an disability ? Please help me to understand this. Thank You
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2007-08-20 |
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whats the main appearance distinguish between thanatophoric dysplasia and osteogenesis imperfecta? View Answer |
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2007-08-11 |
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What rate of growth (grams per day) would I expect of an infant with Kniest Dyspalasia? Also, is there a growth chart associated with Kniest?
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2007-07-30 |
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My husband and I have 2 children. Our older son is 3 and has no health conditions or issues to speak of. And our younger son is 1 and has Pfeiffer Syndrome. I just found out we are expecting our 3rd child and would like to know if our chances are greater that he/she may also have a genetic condition since we already have one child with one. View Answer |
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2007-07-28 |
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I am a female with achondroplasia married to an average height man. I have three children, one of whom inherited the achondroplasia. My oldest son, who is above average in height, 6'4" is expecting his first child with an average height woman. What are the chances that my grandchild will be born with achondroplasia? View Answer |
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2007-07-02 |
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on 8th june i've patient which diagnosed with mltiple congenital anomaly,and my collegue from obstetry said that the baby was thanatophoric dysplasia. How to diagnosed and is there a treatment to long term the survival? thanx View Answer |
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2007-06-22 |
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Hi, My husband and I have talked about getting pregnant but my husband was born with syndactly on one hand. His toes and other hand are perfectly fine. The only other person in his immediate family and distant family that has any other problem is his older brother and he had bi-syndactly. His toes were not affected just his hands. Neither one of the hands were too severe though. My husband had to have a finger amputated when he was five because of the tendon pulling on the other finger. I was just wondering what are the chances of this being passed on to our baby? Thanks for your help! View Answer |
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2007-06-15 |
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My husband and I both have Achondroplasia. We would like to start a family, but I am aware that there are risks assosiated with have a child that will have a high percent chance of inheriting this disorder. Can you give me some more information and advise? View Answer |
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2007-05-11 |
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I am currently 37 weeks pregnant. Our baby was diagnosed with "a form of dwarfism" at 34 weeks (his limbs measured approx 27 weeks at that ultrasound). How accurate are ultrasounds in detecting dwarfism? is it possible that he can still be average height? He shows no other signs. His hands and feet appear to be average. His head is measuring in the 66th percentile. I asked about my previous 3 children and there heads measured the same at this point. His spine also appears "normal". Just wanted another opinion. View Answer |
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2007-04-19 |
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I am doing a project on achondroplasia. Me and my partner both have achondroplasia. We need to know whether our children would have it. Would every child have it? Is there any way that we can prevent it from happening? Thank you for you help. View Answer |
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2007-04-16 |
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My son has hypochondroplasia. He is 18 yrs old now and is 5'4". My husband also has achondroplasia. This question is about my granddaughter. She was born hydrocephalic and was diagnosed with holoprosencephaly at birth. She has since had further MRI's and has received the same diagnosis. However, she is very high functioning and because of this they are questioning her diagnosis now. She is now 10 yrs of age. She has neither grown nor put on weight in the last 8 mos. and has now seen a endocrinologist. A bone age is being done and all other labs are being run but have not come back as of this date. She only weighs 42 lbs. My son hardly ate and he, at 18, only weighs approximately 98 lbs. Both my family and my granddaughter's family have been seen by geneticists. My family was told that my son was not hypochondroplasic and my granddaughter's family was told her condition was a fluke. However, my son's endocrinoligist says he infact does have hypochondroplasia and that there are 200 different types of hypochondroplasia and they don'r run for all two hundred. Just a small history. My question is this. Could my granddaughter have hypochondroplasia with hydocephaly connected to it? I have all sons and one other grandson. She is the only girl in the immediate family. All of my kids heads are exceptionally large and with a specific shape to them except for the one diagnosed with hypochondroplasia. He has a normally shaped head and his limbs are in proportion to his trunk. My husband has frontal bossing, shortened forearms, short legs with a height of 5' 6" or 5' 7". He also has a large head. I believe this gene was passed from his mother, who got it from her mother, and then passed to him. I have always believed that my granddaughter, and being the only girl, seemed to get the brunt of this. Any input would be appreciated. View Answer |
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2007-04-13 |
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in 1975 i lost my first child of many to achondrogeneis type 1b then my doctor told me the evens and odds. now i read on the internet you really don't have a even and odd do you? View Answer |
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2007-04-13 |
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What is the average life exceptancy for a person with achondroplasia? View Answer |
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2007-04-04 |
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I have been diagnosed with SMED,my mother ,brother and son are said to have the same condition.I do not have the barrel chest like them nor are my limbs short,I have myopia and was born with a cleft palate and have hearing lose.upon looking up this disease I don't appear to have the same thing as my family.I am hopeing you can help me figure this out.none of the others were born with myopia,cleft palate or hearing problems.they range in height from 4ft7 to 5ft and I am 4ft10.please help me with more info.like can my average sized children pass it on. View Answer |
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2007-03-19 |
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I'm just curious as to which side of the family, mother or father, would dwarfism come from? I'm asking because my boyfriend's uncle, his mom's brother, is a dwarf, and I'm wondering if there is a better chance I will have a child who is a dwarf if I were to become pregnant with his child. View Answer |
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2007-03-15 |
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I am doing a reseach paper on achondroplasia. I have a friend here at my university that I believe has a form of achondroplasia. I know what causes it and mainly new muatations from the father. I know that men of older age, usually 40 and older, produce offspring with this conditon. I asked her some questions, already knowing what I know about the condition. One of my questions was how old her father was when he had her. She tells me that he was in his early 20's. {Both her parents are of normal height, none of her family members, both sides of them, are normal.] I cannot explain this since I have been told other wise by the many websites. I was wondering if you could give me some more insight on this. I believe her father formed a mutation at an early age is it possible? Thank you. I will be looking forward to your response. View Answer |
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2007-03-06 |
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My husband's sister and brother are both affected by Spondyloepiphyseal dysplasia congenita. He and his other brother are not. Neither of his parents or anyone else in either parent's family are affected. This is supposed to be an Autosomal Dominant disorder--is this possible? What would the chances of our children being affected be? View Answer |
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2007-03-06 |
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i had a child with thanaophoric dysplasia in 1993 she died shortley after birth and i would like to know if my son who is 5'3 and is 16years old has a chance of having a genetic disorder? he has pulmanary stenoisis and microvalve prolaps. he had fistulas when he was a baby. his body is normal big head his teeth a very crooked and other than being short i am only 5'2 and his father is 5'11 i dont know i also would like to know if my daughter had td1 or td2? how could i find this out or will i never becacuse they just used an exray and visual to dignoise her i didnt find out that she had this disorder until about 29 or 30 weeks very poor care at my doctors visits. had a ultra sound at 17weeks and he said he could not get a femer lenghth but never did another ultra sound i was 40cm when i had her at 33 weeks he thought i might have justation diabeitesl. can you advise me on my son?
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2007-02-05 |
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I have Diastrophic Dysplasia and I have had constant headaches for about two weeks. I was prescribed migraine medication and this helps but I have to take it everyday. When I sleep I seem fine. I was wondering if my headaches could be associated with my dwarfism? My neck cracks a lot and the pain is near that area. View Answer |
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2007-01-15 |
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if 6 fingers is dominant over 5 fingered people, why don't we see more 6 finger people in the population? View Answer |
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2007-01-13 |
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What kind of genetic testings are availaiable for achondroplasia? I've doing some research and I know that this is a point mutation but what type of genetic testing are used to detect this condition before or right after birth?
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2007-01-12 |
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What does this all mean and what type of conditions or illnesses does my son have to look forward too also would he have any deveopmental delays. he seem's to be less mature than my other children all younger then him. anyways this is what it says david is heterozygous for an 18 bp deletion from nucleotide 259 to 276 of the TWIST gene. This mutation results in an in frame deletion of 6 amino acids from position 87 to 92 of the encoded polypetide.(TWIST GENE for Saethre-Chotzen Syndrome.) please any information will help - confused and frustrated. View Answer |
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2007-01-01 |
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Do people with Achondroplasia get Menopause early? View Answer |
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2006-12-22 |
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I gave birth to a child with Thanatophoric Dwarfism in 1978. I now have two children and I am wondering if they need to be tested for this gene prior to having their own children?
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2006-12-17 |
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i am doing a genetics presentation on achondroplasia dwarfism in humans and was wondering what gene is affected, where it is affected and is it hereditary, how common is it to the human popultaion. View Answer |
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2006-11-30 |
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I have a grand daughter age 2 years old with Pfeiffer's syndrome type III .Her mutation is the FGFR-2 gene.The doctors are now considering if she has a immune disorder as well.My question is do you know of any immune disorders associated with pfeiffer's.Your answer will be appreciated.She has a twin sister with no syndrome.
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2006-11-27 |
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My sister just gave birth (2 days ago) to a child with Diastrophic Dysplasia. It is my understanding that this is an autosomal recessive disorder and that, therefore, both parents must have this "abnormal" gene. There are no other dwarfs in my family that I know of. I have three children with no dysplasias, although they are all pretty short (sons 5'6" to 5'7" at full height and daughter 5'1" 2 years following her first menstrual cycle). I am not planning to have anymore children, but my question is should my children be concerned about having the gene my sister has? Should they seek genetic counseling before attempting to have children? What is the chance that they carry the gene? We just found out today about my niece's diagnosis. We have known throughout most of the pregnancy that there was a skeletal problem with short limbs, but they had not determined what it was until today. She is on a respirator and was born 7.5 weeks premature, but it looks as if she will get through this and go home with my sister and her husband and some point in the future. We are so thrilled that her problems do not appear to be life threatening.Please give me any information you can both for my sister and her family and my family as well. View Answer |
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2006-11-03 |
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I am a parent of a child with Achondroplasia. It was determined that my daughters condition was a new mutation as we have no family history of Achondroplasia. This week my son and his wife had and ultrasound at 22 weeks to determin the sex of their unborn baby and it was diagnosed with Thanatophoric Displasia, which is a form of dwarfism, as is Achondroplasia. Could there possibly be a connection between the two dysplasias and possibly the gene mutation in both be an inherited condition in our family genetics? or was this a fluke in both cases? View Answer |
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2006-10-14 |
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My boyfriend has Spondyloepiphyseal Dysplasia Congenita, which he inherited from his mother...and it runs on her side of the family. However their are no women in the family that have it, only men. What are the chances that our kids would have it? View Answer |
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2006-09-27 |
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Do patients with Ofeiffer syndrome commonly experiance neck pain? View Answer |
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2006-09-09 |
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Based on genetic testing of a newborn, a diagnosis of dwarfism was made. The parents ask the nurse whether this could happen to future children. since this is an example of autosomal dominant inheritance, what should the nurse tell the parents? View Answer |
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2006-08-31 |
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My boyfriend and I both have Diastrophic Dysplasia. We know that if we have a child the chances of our child being Diastrophic are virtually 100%. But we were wondering, since I'm moderately affected by it (3'1" and orthopedic/spinal problems and no respiratory problems), and he's somewhat less affected (4'9" and orthopedic but no spinal or respiratory problems), how would our child turn out? We are worried that it could be worse off than me with respiratory problems and such. Is there a Double Dominance possibility that is not compatible with life? View Answer |
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2006-07-24 |
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My daughter is moderately affected with diastrophic dysplasia (height 3' 2") and is in a relationship with a man who also has diastrophic dysplaisa who is somewhat less affected (height 4'9"). If they marry, what are the chances of their offspring inheriting the disorder? If a child inherits the disorder, could there be a "double dominance" problem?
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2006-07-24 |
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I'm not sure that my daughter has a genetic disorder, but I'm concerned about her stature. She was born at 19" and 6# 13oz. She is now 10 months old and 28", she has been crawling for one month and will cruise around furniture but cannot stand alone unless supported by holding my hands. Her legs and arms appear to be short and her hands and feet are small. Is this something I can assume my pediatrician will recognize or should I bring it up myself? She also has very small ear canals. My husband is 5'7 but his mom is only 4'11, so I have a tendency to think her short stature is hereditary. I am 5'5. Should I be considered that my daughter has hypochondroplasia or achondroplasia? View Answer |
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2006-07-21 |
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I was told that I had Klippel-Fiel syndrome that has to do with spine fusion and major organ development. I have 6 fused vertibrae, missing a kidney, and just had heart surgery to replace a valve. I am 39. My 3 year old daughter was diagnosed with craneosynestosis (sp) at six months and had surgery to reshape skull and is doing great. (One suture was fused). My mother's sister's daughter recently had a daughter diagnosed with Pfeifer syndrome. In all cases, even after geneology study, it was determined to be not inherited. It seems as though there must be some connection. The odds of all of these in one family must be great. Please let me know what you think. View Answer |
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2006-07-19 |
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I am a 16 year old girl and I have SEDc (spondyloepiphyseal dysplasia congenita). I am about 4 foot 3inch and it is confirmed that I have stopped growing. I have a slightly curved spine and I am short sighted. My partner doesn't have any genetic disorders, and as far as I know there is no history of any in his family. What i would like to know is if we were to have children would they have SEDc or be effected by it in any way at all? If yes, then what are the chances of them having it? I would also like to know if it would be safe for me to carry a child during pregnancy. Would it harm me or the child? Also would there be a possibility that, if my child doesn't have SEDc, i would end up not being able to carry it through pregnancy? View Answer |
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2006-06-25 |
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My 14 year old son has hemihypertrophy with a 1" leg length discrepency, noticable assymmetry in the chest wall bones and arm, and is being sent for ultrasound of the kidney today. He has macroglossia but surgery was not recommended. It affects his speech with a slight articulation problem but other than that, no problems. He has an unattached ear lobe on the same side as the enlarged bones, almost looks like someone took a bite out of his lobe. The opposite side is attached. He has recently developed lactose intolerance and food allergies to apples, tomatoes, and hazelnut. He has a history of asthma and seasonal allergies. I have searched into a number of syndromes. Any recommendations? View Answer |
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2006-06-14 |
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My husband has shortened fingers, toes that are short and and 3rd and 4th do not have bones. He has some hearing loss in one ear and he cannot see up close well. He also has asthma. His family has a history of tounge-tie with his sisters children.- I am unsure of where to go first to get a basic overview of the possibility of passing these conditions or worse onto children. I would like to know is spondyloperipheral displaysia is the right road or should we find an expert in something else??? Thanks for your time. I appreciate any help you can give. View Answer |
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2006-06-04 |
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Hi, i am adopted and don't know why my family is. There is a little boy i know whom is also adopted and he has clynodactyly (crooked pinky fingers) well i also have the same. is it possible that we could be related? i know that it is rare and i have heard that it is usually among relatives. is it worth it to get a genetic test to determine if we are related? View Answer |
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2006-05-14 |
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Our 38 year old son has microcephaly. It has been so long since we have researched this, have there been any new findings or developments? Do we know what causes it yet?
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2006-05-10 |
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Hi. I am interested in learning about my 15 year-old daughter's thumb. It is normal length, but is much wider at the tip where her finger nail is and the nuckle is stiffer and also wider. Where can I learn more about this? It is a very sensitive subject with her and I have overlooked it all these years, but I am very curious and would like to explain it to her as well. Thank you. View Answer |
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2006-04-25 |
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My son was diagnosed with Pfeiffer's syndrome, he died at the age of 13 years of age. I am wondering at the time of his death he was just over 54 inches tall and wore toddler 13 shoes. Is there a correlation between dwarfism and pfeiffer's syndrome.
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2006-03-26 |
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Would type of gene therapy would you consider using with achondrognenesis? View Answer |
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2006-03-22 |
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Hi, I'm currently doing an assignment on achondroplasia and I was wondering where in the genes is this disorder located and what chromosomes does it affect? View Answer |
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2006-03-20 |
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My husbands mother has Achondraplagia. Her parents were both normal sized, as was my husbands father.
What are the chances of our children inheriting this disorder? View Answer |
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2006-03-14 |
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My cousin was just told that the baby girl she is pregnant with has thantophoric dwarfism. I have done some research and understand the lethality of it, but can't make sense of how it occurs. Is this something that the same two parents can pass on to another child if they become pregnant again? View Answer |
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2006-03-12 |
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My 19 y/o daughter gave birth to a son (6mo.old now) with Cleft hands? His hands are split down the center, and missing a finger on each side. She is presently living in North Carolina, and has been referred to a genetic and orthopedic physicians. How and why did this occur? Was it something my daughter did or took while pregnant? Was it past on thru the father or mother? What can be done for this little boy? Will this anomalies continue with all of their children?
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2006-03-07 |
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What does it mean if anything at all ...An adult born with a small skull unproportion to the relatively normal body 5' 2" tall? Skull extremely flat on top and flat on the back of skull, but appears too small for the body type. Small face with normal features.
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2006-03-05 |
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How does Achondroplasia get its name? When was this disorder discovered/first described? By whom? View Answer |
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2006-02-28 |
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Hi I have a Spondyloepihyseal dyslasoa congenta and I was wondering What the average life expectancy for a person with this conditionin is.
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2006-02-22 |
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I have a question my boyfriend has achondroplasia and his parents don't have that why does he have achondroplasia ? and can these people grow to 5 feet ? View Answer |
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2006-02-21 |
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My son has MHE. There is on going research about Heparan sulfate and its involvment with MHE. What is Heparan sulfate specifcally as it relates to MHE? Please as much in laymans terms as possible. Thank you!
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2006-01-21 |
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I have toe deformaties. Yhe deformatity is the same on both feet. The fourth toe is very small and I have had a foot X-ray; the bone to this toe is also shorter than the rest of the toes. Where can I find out more information about this obvious chromosome abnormality. My father has passed but he was of German and Scottish descent. My mother is Irish.
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2005-10-25 |
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I am 40 yrs. old and have osteochondroma since birth. My eldest child also has it in some parts of her body, notably the legs and thorax. It is painless and does not cause any inconvenience. I am planning to have a second child, but is worried that the baby may also inherit the same condition as my eldest. What steps or tests must me and my wife do to hopefully have a worry-free pregnancy for my wife? View Answer |
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2005-09-14 |
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My husband, his brother and his mother all have hammer toes. We are pregnant with a daughter. I am wondering if his hammer toes are an x-linked disorder and what the likelihood is of my daughter inheriting them. If it is an x-linked disorder, would any future sons be assured of inheriting hammer toes? View Answer |
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2005-09-14 |
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