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Freeman-Sheldon syndrome

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.

ORPHA:2053

  • 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
  • ICD-10: Q87.0
  • OMIM: 193700  277720  616266
  • UMLS: C0265224
  • MeSH: C535483
  • GARD: 6466
  • MedDRA: -

Additional information

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