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Freeman-Sheldon syndrome

Synonym(s) Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Whistling face syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Neonatal
  • Q87.0
  • C0265224
  • C535483
MedDRA -


Disease definition

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

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