Williams syndrome
Updates to Article Attributes
Body
was changed:
Williams syndrome (WS) is characterised 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
- hypercalcaemia
Pathology
Genetics
A deletion of chromosome band 7 that encodes the elastin gene is thought to 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.
-<a href="/articles/pulmonary-artery-stenosis">pulmonary artery stenosis</a> <sup>3</sup>- +<a title="Pulmonary artery stenosis types" href="/articles/pulmonary-artery-stenosis-types">pulmonary artery stenosis</a> <sup>3</sup>
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