x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.

ORPHA:163634

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: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.