Williams syndrome

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Williams Syndrome

Williams Syndrome (pronunciation: /ˈwɪlɪəmz ˈsɪndroʊm/), also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. These often occur side by side with striking verbal abilities, highly social personalities, and an affinity for music.

Etymology

The syndrome is named after Dr. J.C.P. Williams of New Zealand who, along with his colleagues Dr. A.J. Beuren and Dr. A.G. Bland, first described the condition in 1961.

Symptoms

People with Williams syndrome tend to have a distinctive facial appearance which includes a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many have dental problems such as small, widely spaced teeth and a small jaw. These symptoms are often referred to as Facial dysmorphology.

Individuals with Williams syndrome also frequently have a form of cardiovascular disease called Supravalvular aortic stenosis (SVAS), which is a narrowing of the large blood vessel from the heart.

Causes

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.

Treatment

There is no cure for Williams syndrome. Treatment is supportive and based on the individual's symptoms. This can include Speech therapy, Physical therapy, and Occupational therapy to help with developmental issues. Cardiovascular disease can be treated with medication or surgery.

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