William Syndrome

Question 1

What is William syndrome?

Answer 1

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.

Question 2

Features of William Syndrome?

Answer 2

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.

Question 3

William syndrome associated conditions?

Answer 3

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

Question 4

Management of William syndrome?

Answer 4

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.