Williams Syndrome

by Jacob Luedy

Description

Williams Syndrome is a chromosomal abnormality that is present at birth and can affect anyone. It develops in 1 out of 7,500 to 10,000 people. It was discovered and named after J.C.P. Williams, a New Zealand cardiologist. People with Williams Syndrome may have cardiovascular disease, developmental delays, and learning disabilities. Positive side effects include increased verbal abilities, an affinity for music, and highly social personalities.
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Symptoms

As the patient ages, more unwanted side effects tend to appear. These include hypersensitivity to loud noises, dental problems, gastrointestinal problems, anxiety/other emotional problems, and early wrinkles. Unusual facial features are the most common symptoms (small, upturned nose, wide mouth, small chin, widely spaced teeth). Life expectancy tends to be normal for patients with Williams Syndrome, although no studies exist on the subject.
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Genetics

Williams Syndrome is a dominant trait, but in some cases it can be passed down from parent to offspring. Every ethnic group, gender, and age group are equally effected. No environmental factors influence the development of Williams Syndrome. People with Williams Syndrome have a deletion mutation in Chromosome 7. There is missing genetic material in the gene elastin.
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Diagnostic tests

A simple blood test can determine whether a patient has Williams Syndrome in 98% of cases. A newer test, known as micro-array analysis, not only identifies elastin deletion but can also provide more information on the size of the deletion.
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Prevention and Treatment

There is currently no way to cure Williams Syndrome. Special education and therapy improves a patient's physical and mental performance. Regular visits to doctors, especially a cardiologist, are highly recommended. Supplements of zinc have proven to be healthy for a patient. Unproven methods of reducing negative side effects include massage therapy, musical therapy, yoga, and multiple vitamin supplements. Behavioral, speech, and physical therapy are recommended. It is best if the child with Williams Syndrome is diagnosed and treated as early as possible to prevent future complications and immediately start treatment.
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Supporting Organizations

The Williams Syndrome Association (WSA), Williams Syndrome Changing Lives Foundation, and the National Organization for Rare Diseases (NORD) all help with funding and treating Williams Syndrome.
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