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Doctor insights on: Williams Syndrome Children

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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

Dr. Fred McCurdy
63 doctors shared insights

Williams Syndrome (Definition)

Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more


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Is goldenhar syndrome heritable?

Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

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Can anyone with tourette's syndrome develop coprolalia?

Can anyone with tourette's syndrome develop coprolalia?

Yes: Coprolalia is the excessive and uncontrollable use of foul language, including words related to feces (bowel waste). It is a typical symptoms in tourette's syndrome -- a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. People with tourette's curse out of uncontrollable compulsion, not anger or desire to insult. ...Read more

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Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

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What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

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Goldenhar syndrome treatment?

Goldenhar syndrome treatment?

Birth defect: Congenital birth defect that affects the development of the ear, nose, mandible, and palate. ...Read more

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Is treacher collins syndrome a mitochondrial disorder?

No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein.Researchers cite chromasome 5 as the predominant location for this defect.About 60% of cases are thought to represent new mutations. ...Read more

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Can someone with Jacobsen syndrome have children?

Can someone with Jacobsen syndrome have children?

Maybe: This is a complicated condition and many children will have developmental/intellectual delays. Best if you make an appointment with a Genetic Specialist who can guide you through the diagnosis and possible outcomes. Here's an article that you may find helpful. http://ghr.nlm.nih.gov/condition/jacobsen-syndrome ...Read more

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Is prader willi syndrome hereditary?

Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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Is kabuki syndrome genetic?

Is kabuki syndrome genetic?

Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome ...Read more

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Are children with Down syndrome clumsy?

Are children with Down syndrome clumsy?

Down syndrome: It is not at all uncommon to see clumsy behavior in children with down's syndrome. ...Read more

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Can people with asperger's syndrome have selective mutism?

Can people with asperger's syndrome have selective mutism?

Yes: It can be difficult to disentangle at times, but individuals with asperger's syndrome can also be quite anxious and one symtom of that may be selective mutism, where they speak only in the presence of certain individuals and specific "comfort zones." in my experience, it is not a common combination, and it is more usual that they are shy and anxious, rather than completely mute. ...Read more

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Can vaccinations cause asperger's syndrome?

Can vaccinations cause asperger's syndrome?

No: Research shows that the potential for having an autism spectrum disorder is determined before birth. Environmental influences that change the expression, but not the configuration, of genes are called " epigenetic." the mindinstitute.Org has the best balanced information on vaccines and autism. ...Read more

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Can someone with turner syndrome have kids?

Can someone with turner syndrome have kids?

Perhaps: Females with turner's syndrome have only one normal x chromosome and have amenorrhea, no ovulation, and are sterile. There is a condition called mosaic where there may be a defective or partial x chromosome along with a normal one. Now, with modern technology such as oocyte donation some women with turner's may carry a pregnancy. There are other risks, however. ...Read more

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How many people worldwide have williams syndrome?

How many people worldwide have williams syndrome?

Estimate is:: 1 per 7, 500 to 20, 000 people suffer from williams syndrome. Thus, it is listed as a "rare disesase" by office of rare disease (ord) and national institutes of health (nih). ...Read more

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Who discovered patau syndrome?

Who discovered patau syndrome?

T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas bartholin in 1657. ...Read more

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Is XXY klinefelter's syndrome related at all to marfan's syndrome?

Is XXY klinefelter's syndrome related at all to marfan's syndrome?

No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read more

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Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

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Help docs, is goldenhar syndrome alike to down syndrome?

Help docs, is goldenhar syndrome alike to down syndrome?

No: Down's Syndrome is caused by a translocation of the 21st chromosome. The cause of Goldenhar syndrome is not exactly clear. Totally unrelated syndromes. ...Read more