Freeman Sheldon syndrome

Last revised by Rohit Sharma on 15 Dec 2018

Freeman Sheldon syndrome (FSS), also known as distal arthrogryposis type IIa, is a congenital condition where multiple joint contractures are a key feature. Affected individuals are known to have a characteristic facial expression resembling that of a whistling face and hence the syndrome is also sometimes known as the whistling face syndrome.

The clinical spectrum includes

It is thought to carry an autosomal dominant inheritance in most cases with occasional sporadic and autosomal recessive forms.

It was initially described by E A Freeman and J H Sheldon in 1938 6

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Cases and figures

  • Case 1: with patella subluxation
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