Williams syndrome

Williams syndrome (WS) is characterised by some or all or the following features:

Pathology

Genetics

A deletion of chromosome band 7 that encodes the elastin gene is thought be present in ~95% of cases 1. Predominately sporadic inheritance.

Williams syndrome is a rare cause of medullary nephrocalcinosis 5 and middle aortic syndrome 6.

History and etymology

First identified in 1961 by J. C. P. Williams, New Zealand physician 4.

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Article Information

rID: 9090
Section: Syndromes
Synonyms or Alternate Spellings:
  • William syndrome
  • Wllliams-Beuren syndrome
  • Williams' syndrome

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