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.

Clinical features

The clinical spectrum includes

• cranio-facial:
  • long philtrum
  • mouth puckering
  • microstomia
  • H-shaped chin dimple
  • orbital features
    • hypotelorism :
    • drooping of the upper eyelids :
    • strabismus:
  • low-set ears
  • gradual hearing loss
  • microcephaly 
• musculoskeletal:
  • arthrogryposis: joint contractures often tends to be severe
  • camptodactyly
  • ulnar deviation
  • equinovarus
  • congenital kyphoscoliosis
  • club feet

Pathology

Genetics

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

Siehe auch:

• Mikrozephalie
• Kamptodaktylie
• Klumpfuß
• Arthrogryposis multiplex congenita
• Hypotelorismus
• low set ears
• langes Philtrum
• Mikrostomie

und weiter:

• Trisomie 18