Orphanet: Maffucci syndrome

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Maffucci syndrome

Disease definition

Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Childhood
  • ICD-10: Q78.4
  • OMIM: 614569
  • UMLS: C0024454
  • MeSH: -
  • GARD: 6958
  • MedDRA: -
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