Williams

Williams Syndrome (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.

Symptoms and Signs

Williams syndrome is characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia.

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.

Diagnosis

Diagnosis of Williams syndrome begins with recognition of physical symptoms, followed by a confirmatory genetic test. A small percentage of cases occur randomly, with no known history of the disease in the family.

Treatment

There is no cure for Williams syndrome. Instead, treatment is focused on controlling symptoms and complications. This may include cardiovascular treatment, physical therapy, and developmental and educational intervention.

See Also

• Genetic Disorders
• Cardiovascular Diseases
• Developmental Delays
• Learning Disabilities

External Links

• Williams Syndrome Association

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