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Fibrodysplasia ossificans progressiva

Disease definition

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

ORPHA:337

  • Synonym(s):
    • FOP
    • Myositis ossificans progressiva
    • Stone man syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Childhood
  • ICD-10: M61.1
  • OMIM: 135100
  • UMLS: C0016037
  • MeSH: D009221
  • GARD: 6445
  • MedDRA: 10068715

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