William Syndrome

William syndrome is caused by a deletion of genetic material on one copy of chromosome 7, resulting in the person only having a single copy of the genes on this deleted region (on the other chromosome 7). It usually the result of a random deletion around conception, rather than being inherited from an affected parent.

 

Features

  • Broad forehead
  • Starburst eyes (a star-like pattern on the iris)
  • Flattened nasal bridge
  • Long philtrum
  • Wide mouth with widely spaced teeth
  • Small chin
  • Very sociable trusting personality
  • Mild learning disability

TOM TIP: The distinctive features to remember with William syndrome are the very sociable personality, the starburst eyes and the wide mouth with a big smile. It is worth remembering the association with supravalvular aortic stenosis and hypercalcaemia, as these are unique features that are easy to test in exams.

 

Associated Conditions

  • Supravalvular aortic stenosis (narrowing just above the aortic valve)
  • Attention-deficit hyperactivity disorder
  • Hypertension
  • Hypercalcaemia

 

Management

Like many other genetic syndromes, there is no cure and management focuses on a multi-disciplinary team approach to managing individual problems and supporting the patient and family. Echocardiograms and blood pressure monitoring are important to assess for aortic stenosis and hypertension. A low calcium diet may be required to control hypercalcaemia, and they should avoid calcium and vitamin D supplements.

 

Last updated January 2020
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