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.
History and etymology
It was initially described by E A Freeman and J H Sheldon in 1938
- Arthrogryposis multiplex congenita
- low set ears
- langes Philtrum