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Williams Syndrome

Williams syndrome definition and facts*

*Williams syndrome definition and facts medical author: Charles Patrick Davis, MD, PhD

  • Williams syndrome is a disorder in development that usually results in learning problems, attention deficit disorder, anxiety, and phobias but affected individuals have outgoing personalities.
  • Sings and symptoms of Williams syndrome include
  • distinct facial features (broad forehead, short nose with a broad tip, full cheeks, wide mouth with full lips, and dental problems),
  • People with Williams syndrome frequently develop aortic stenosis, high blood pressure, and other cardiac and connective tissue related problems and hypercalcemia.
  • About 1 in 7,500 to 20,000 people have Williams syndrome.
  • Williams syndrome is caused by deletion of genetic material from chromosome 7; the deleted area includes more than 25 genes and not all may be deleted so individuals may vary in the amount of genetic material deleted.
  • Most people do not inherit Williams syndrome; the deletions in chromosomes are due to random events that occur in eggs or sperm from their parents; the syndrome is autosomal dominant because only one copy of the altered chromosome 7 can cause the disorder.
  • Williams syndrome has many names, for example, Beuren syndrome, Elfin Facies Syndrome, Elfin Facies with hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Infantile hypercalcemia, Supravalvar aortic stenosis syndrome, WBS, Williams-Beuren Syndrome, WMS, and WS.

What is Williams syndrome?

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

Medically Reviewed by a Doctor on 9/21/2016


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