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http://learn.genetics.utah.edu/content/disorders/whataregd/williams/index.html

http://www.williams-syndrome.org/

http://ghr.nlm.nih.gov/condition/williams-syndrome


How the human body system is affected.

How does the body function?

~The body has difficulty developing correctly.

What organs are affected by Williams syndrome?

~It affects your brain, heart, and facial features.


Genetic cause of Williams Syndrome

What is its inheritance pattern?

~There is only a 50% chance of passing this trait on.

What specific chromosome is affected?

~Chromosome 7. This disorder is caused by a deletion of chromosome 7.


Characteristics of Williams Syndrome

How are people with this disorder affected?

~Williams syndrome is a rare disorder that affects the development of growth and physical appearance in children.  People with this syndrome are missing the genetic materials from their chromosome 7.

What are the symptoms of this disorder?  At what age does it begin to show?

~Low birth weight, heart defects, unusual facial features, low muscle tone, and sensitive to loud noises.  Children are the people who are likely to get this disorder.

What is the life expectancy of someone with this disorder?

~Life expectancy is normal, unless the person with Williams syndrome has a serious heart defect.

How common is this disorder?

~It is a rare disorder.  About every 1 in 7,500-20,000 births of children are affected with this disorder.

Are some populations more prone to get this disorder?

~No, no certain race is more certain to get Williams Syndrome.

Can it be diagnosed without genetic screening?

~Yes, doctors can identify it by it’s distinctive physical characteristics. They use a special technique called FISH (fluorescent in situ hybridization).

Are there any treatments for this disorder?

~NO!

What is the outcome without treatment?

~As of now, there are no known treatments for Williams Syndrome.

When and how are individuals screened for Williams Syndrome?

~Individuals with Williams Syndrome are more likely to be screened for it at a younger age.


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