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, first described the condition in 1961.

Symptoms

People with Williams Syndrome may have a range of symptoms, including:

Cardiovascular disease: This is often due to narrowing of the blood vessels, which can lead to high blood pressure and other complications.
Developmental delay: Children with Williams Syndrome often reach developmental milestones later than their peers.
Learning disabilities: These can range from mild to severe, and often affect spatial relations and numbers more than language.
Social personality: Individuals with Williams Syndrome are often very friendly and enjoy interacting with others.
Music affinity: Many people with Williams Syndrome have a strong love for music, and may have musical talents.

Causes

Williams Syndrome is caused by a deletion of about 27 genes from the long arm of one of the two chromosome 7s. The exact mechanism by which this genetic deletion leads to the symptoms of Williams Syndrome is not fully understood.

Treatment

There is no cure for Williams Syndrome. Treatment is supportive and based on the individual's symptoms. This may include cardiology care for heart problems, speech therapy for language delays, and educational support for learning disabilities.

External links

Medical encyclopedia article on Williams Syndrome
Wikipedia's article - Williams Syndrome

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Williams Syndrome