Williams syndrome

Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterized by some or all of the following features:

• craniofacial dysmorphism (e.g. elfin facies)

• oral abnormalities

• short stature (50% of cases)

• mild to moderate intellectual disability 

• supravalvular aortic stenosis ²

• pulmonary artery stenosis ³

• renal insufficiency

• hypercalcemia

• renal artery stenosis

Pathology

Genetics

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

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

History and etymology

Williams syndrome was first identified in 1961 by John Cyprian Phipps Williams (1922-fl.1970s), a New Zealand cardiologist, who was a rather eccentric individual. He was last seen alive in the mid 1970s in Salzburg in Austria. Interpol were unable to locate Dr Williams after a request from his sister and in 1988 the High Court of New Zealand decreed that he was “a missing person presumed to be dead from 1978” ^4,7.