Maffucci syndrome

Also known as: Enchondromatosis with hemangiomas

Multiple enchondromas with spindle cell hemangiomas.

Medical specialty: Dermatology
Subspecialty: Dermatology / Vascular anomalies
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, enchondromas in childhood
Gene(s) involved: IDH1, IDH2

Etiology & mechanism

Somatic IDH1 or IDH2 mosaic mutations.

Gene(s) involved (2)

IDH1IDH2

Symptoms & signs (6)

bone deformitychondrosarcomaenchondromashemangiomaslimb shorteningpathologic fractures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.