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Williams syndrome

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Williams syndrome
Pathology
Type

Genetic

Cause(s)

Gene deletion from chromosome 7

Symptoms

Mental disability, heart defects, unusual facial features

Mortality Rate

N/A

Treatments

None, but music therapy is generally helpful

Show Information
  [Source]

Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental disorder 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.

It is caused by a deletion of about 26 genes from the long arm of chromosome 7. The syndrome was first identified in 1961 by New Zealander Dr. J. C. P. Williams and has an estimated prevalence of 1 in 7,500 to 1 in 20,000 births.

Williams syndrome at Wikipedia

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