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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Williams syndrome


Other Names for this Disease
  • WBS
  • Williams-Beuren syndrome
  • WMS
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Symptoms


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What are the signs and symptoms of Williams syndrome?

The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by mild to moderate intellectual disability, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.[1] 

People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder.[2]

The most significant medical problem associated with Williams syndrome is a form of cardiovascular disease called supravalvular aortic stenosis (SVAS). SVAS is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome.[2] 

Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as small, widely spaced teeth and teeth that are crooked or missing. In older children and adults, the face appears longer and more gaunt.[2]

Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected children may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible.[2]
Last updated: 11/16/2011

References
  1. NINDS Williams Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). September 9, 2008; http://www.ninds.nih.gov/disorders/williams/williams.htm. Accessed 11/16/2011.
  2. Williams syndrome. Genetics Home Reference (GHR). March 2008; http://ghr.nlm.nih.gov/condition/williams-syndrome. Accessed 11/16/2011.