Williams Syndrome

Overview

What is Williams syndrome?

Williams syndrome is a genetic condition that is present at birth. It is characterized by developmental delay, learning difficulties, a unique personality-type that combines high sociability (over-friendliness) and high levels of empathy with anxiety. People with Williams syndrome have a typical facial appearance that includes a short nose with a broad tip, a wide mouth, full cheeks, full lips, and a small chin. They are often described as “elfin-like.” They are also likely to have a long neck, sloping shoulders, short stature, limited joint mobility, and a curved spine. People with Williams syndrome are also prone to heart disease caused by narrow arteries.

References
  • http://www.ninds.nih.gov/disorders/williams/williams.htm
  • https://ghr.nlm.nih.gov/condition/williams-syndrome
  • https://www.ncbi.nlm.nih.gov/books/NBK1249/
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Are there other names for Williams syndrome?

How common is Williams syndrome?

What is the usual abbreviation for Williams syndrome?

Are there other names for Williams syndrome?

Williams syndrome is also known as Williams-Beuren syndrome and chromosome 7q11.23 deletion syndrome.

It is less frequently referred to as the following:

  • Beuren syndrome
  • Early hypercalcemia syndrome with elfin facies
  • Elfin facies with hypercalcemia
  • Hypercalcemia-supravalvar aortic atenosis
  • Williams elfin facies syndrome
References
  • http://rarediseases.org/rare-diseases/williams-syndrome/
  • http://www.omim.org/entry/194050
  • https://www.ncbi.nlm.nih.gov/books/NBK1249/
How common is Williams syndrome?

Williams syndrome is a rare disorder that affects approximately 1 in 10,000 babies at birth.

References
  • https://ghr.nlm.nih.gov/condition/williams-syndrome#statistics
  • https://www.ncbi.nlm.nih.gov/books/NBK1249/
  • https://rarediseases.org/rare-diseases/williams-syndrome/
What is the usual abbreviation for Williams syndrome?

Williams syndrome is most often abbreviated as WS or WBS.

References
  • http://www.omim.org/entry/194050

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