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Doctor insights on: Medicine For Williams Syndrome

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I need to know about williams syndrome?

I need to know about williams syndrome?

William's Syndrome: You can type in william's syndrome into an internet search engine and find a whole bunch of information. Why not start here: http://www. Williams-syndrome. Org/what-is-williams-syndrome. ...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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How do you tests for williams syndrome?

How do you tests for williams syndrome?

FISH or micro array: 2 tests: fish (fluorescent in situ hybridization-special chromosome analysis using specially prepared elastin probes. Normal folks have 2 copies of elastin gene on chromosome 7. Micro array analysis is the other. ...Read more

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What are the symptoms of williams syndrome?

What are the symptoms of williams syndrome?

Williams syndrome: Delayed speech that may later turn into strong speaking ability and strong learning by hearing
developmental delay
easily distracted, attention deficit disorder (add)
feeding problems including colic, reflux, and vomiting
inward bend of the small finger (clinodactyly)
learning disorders
mild to moderate mental retardation
personality traits including being very friendly, trusting strangers, fearin. ...Read more

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Williams syndrome can u still work with this?

genetic eval needed: Williams syndrome is a rare genetic condition that can affect many organ systems. It can affect the brain, heart an skeletal system. There are guidelines for what medical evaluations should be done on a annual basis. Talk to a geneticist to help coordinate care. ...Read more

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Is poor grammar a symptom of williams syndrome?

William's Syndrome: Children and adults with williams’s syndrome have very impressive social and verbal abilities. Their verbal abilities surpass their overall IQ scores. The language used by individuals with williams’s syndrome differs notably from other children with a similar IQ who do not have williams syndrome. They also tend to use speech that is rich in emotional descriptors. ...Read more

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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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What are the common symptoms of williams syndrome?

Growth and cardiac: Williams syndrome patients have often growth deficiency. Language ability is greater than cognitive ability. They are friendly, have a hoarse voice, anxious, hypersensitive to sounds. Often, they have blue eyes, with a stellate pattern in the iris, prominent lips, hypoplastic nails, poor dentition. Supravalvular aortic stenosis and peripheral pulmonary stenosis are common. Renal anomalies as well. ...Read more

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Are speech problems a symptom of williams syndrome?

Not necessarily: Williams syndrome is actually associated with early delayed speech followed by strong speaking abilities and strong learning by hearing. ...Read more

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What are the physical symptoms of williams syndrome?

What are the physical symptoms of williams syndrome?

WILLIAM'S SYNDROME: Transient hypercalcemia in infancy associated with elfin facies, mental retardation and aortic stenosis. ...Read more

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What is the definition or description of: williams syndrome?

What is the definition or description of: williams syndrome?

Williams syndrome: 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 adjacent genes on 7q. ...Read more

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How does williams syndrome affect a person's physical features?

How does williams syndrome affect a person's physical features?

William's Syndrome: Paraphrasing the national website (most young children with williams syndrome are described as having a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. They can also have a prominent "starburst" or white lacy pattern on their iris. Facial features become more apparent with age (see http://www. Williams-syndrome. Org/). ...Read more

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What are the physical symptoms of a child with williams syndrome?

What are the physical symptoms of a child with williams syndrome?

Facial change murmur: Most have prominent lips, star like iris changes, eyebrow flare & skin fold over the inner corner of the eye. Growth is a bit slower than average as is head size. The aortic valve is often tight, producing a murmur. The great toe is often separated a bit from the rest of the toes. ...Read more

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I was wondering what are the physical symptoms of williams syndrome?

Williams Syndrome: The most common symptoms of williams syndrome are mental disability, heart defects, and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy (failure to thrive) and low muscle tone. Individuals with williams syndrome tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge. ...Read more

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Does anyone know where I can find a video covering williams syndrome.?

William's Syndrome: Go here: http://www. Williams-syndrome. Org/catalog/products/dvds.

Get a more detailed answer ›
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Does anyone have or know of any children out there with williams syndrome?

Does anyone have or know of any children out there with williams syndrome?

Have seen a couple: In three decades as a pediatrician, I have seen a couple. My first was during training & one in my practice. Most are felt to be caused by new mutations of one copy of chromosome 7. Years ago diagnosis was based on physical findings, today a gene test or "fish" test probe can be done on potential patients for confirmation. ...Read more

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What is the treatment for williams syndrome?

What is the treatment for williams syndrome?

No cure: Avoid taking too much calcium and vitamin d. Follow up with your pediatrican for monitoring of blood vessel narrowing. Physical therapy and speech/language therapy is helpful. See a geneticist for assistance. ...Read more

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What's the average life expectancy of a person with williams syndrome?

What's the average life expectancy of a person with williams syndrome?

Genetic disorder: Rare disorder multiple systems involved apearance of face and body demonstrates poor developement. Loss of hearing, diabetes, heart failure, aortic valve abnormalities, high blood pressure, just to name a few issues. Life expectancy depends on early diagnosis and intense treatment and follow up. It can be normal except if there heart defect that is serious. ...Read more

Dr. Alan Ali Dr. Ali
2 doctors agreed:
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What is the difference between Angelman syndrome and Williams syndrome?

Dr. Alan Ali Dr. Ali
2 doctors agreed:

Williams/Angelman: Williams show distinct facial features, Cardiovascular abnormalities, Hypercalcemia & Hyperactivity.
Angelman show severe intellectual impairments, Seizures, Ataxia, Speech impairment.
Both are rare genetic diseases involving Chromosomal abnormalities (Chromosome 15 in Angelman, 7 in Williams). ...Read more

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Is it strange for people with Williams syndrome to have a fascination with children's cartoons? As a grown adult, or teenager.

Probably no: Williams syndrome is a disorder where the personality is called cock-tail personality. Very outgoing personality without inhibitions. Although they are outgoing they do have developmental delays and can have low normal IQ. I do not believe it is strange to have a fascination with children's cartoons. Would be based on this person's IQ. ...Read more

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I have Williams Syndrome. I have just started to have safe sex with my boyfriend of 6 years. Is there anything I need to be careful of.?

I have Williams Syndrome. I have just started to have safe sex with my boyfriend of 6 years. Is there anything I need to be careful of.?

Not much: There is nothing in your medical condition of William Syndrome that requires any special care re sexual activity. Just make sure you get you medical evaluations regularly from your regular doctors and needed referrals to specialists, with a particular focus on BP and cardiac complications that unfortunately are part of the disease spectrum including which may exist. It is good to be safe! ...Read more

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Is genetic counseling an option for Williams syndrome?

Is genetic counseling an option for Williams syndrome?

Confusing question: I believe genetic counselling is a worthwhile investment for anyone considering pregnancy. Analysis of the family tree on both sides will occasionally turn up some interesting problems, in addition to any previous issue with a pregnancy. All pregnancies have ~ 4% risk of unexpected outcome (premi, defect, illness, etc.) and knowing what your added risks are and ways to monitor them make sense. ...Read more

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Is williams syndrome a gene or chromosomal mutation?

Is williams syndrome a gene or chromosomal mutation?

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

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What is the name of the protein coded for by gene in williams syndrome?

What is the name of the protein coded for by gene in williams syndrome?

Williams Syndrome: The gene defects in william's syndrome are multiple - 25 genes to be exact. This condition is created due to genes being deleted. I believe the answer you are looking for is "elastin". However, I refer you to this website: (http://ghr. Nlm. Nih. Gov/condition/williams-syndrome) for all of the details about the genetics of william's syndrome. ...Read more

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Could gene therapy or transcranial Direct Current Stimulation (tDCS) or any other method help a patient with Williams syndrome?

Could gene therapy or transcranial Direct Current Stimulation (tDCS) or any other method help a patient with Williams syndrome?

Unlikely: There are no gene therapies I know of for this condition. I have also not seen any research on tDCS use for this condition (mostly depression, parkinson's, gen. anxiety) but very small studies only. I did review Johns Hopkins Psychiatry and Behavioral Science website as they do some of this research. It is very limited and no mention of treatment of Williams syndrome. I am sorry. ...Read more

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Drug abuse can cause pfieffers syndrome?

Drug abuse can cause pfieffers syndrome?

Not that I can find: Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), and abnormally broad and medially deviated thumbs and great toes. Most affected individuals also have an abnormal midface, with protruding eyes and conductive hearing loss. See:http://children.Webmd. Com/pfeiffer-syndrome-type-i
best wishes. ...Read more

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Why doesn't medicine help my tourette syndrome?

Why doesn't medicine help my tourette syndrome?

Do you mean your: Chronic motor &/or vocal tics have not responded to any medication prescribed by your neurologist or psychiatrist? Contact the Tourette Syndrome Association: tsa-usa. Org/aabout_tsa/aContactTSA. Htm. Icahn School of Medicine at Mt. Sinai & Weill Cornell SOM in NYC have TS centers of excellence. See http://www. Tsa-usa. Org/Medical/medical_main. Html for information on valid treatments vs. Chicanery. ...Read more