Freeman Sheldon syndrome

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.

Genetics

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

The clinical spectrum includes

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

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Article information

rID: 13530
System: Obstetrics
Section: Syndromes
Synonyms or Alternate Spellings:
  • Freeman-Sheldon syndrome
  • Whistling-face syndrome
  • Craniocarpotarsal dystrophy
  • Distal arthrogryposis type IIa
  • Distal arthrogryposis type 2A

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Cases and figures

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    Case 1: with patella subluxation
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