Orphanet: Carpotarsal osteochondromatosis

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Carpotarsal osteochondromatosis

Disease definition

Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.


Classification level: Disorder
  • Synonym(s):
    • Maroteaux-Le Merrer-Bensahel syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: D16.9
  • OMIM: 127820
  • UMLS: C1300233
  • MeSH: -
  • GARD: 1128
  • MedDRA: -
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