Dermatology · Dermatology / Vascular anomalies
Maffucci syndrome
also: Enchondromatosis with hemangiomas
Multiple enchondromas with spindle cell hemangiomas.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Vascular anomalies
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, enchondromas in childhood
- Gene(s) involved
- IDH1, IDH2
- Alternative names & eponyms
- Enchondromatosis with hemangiomas
Etiology & mechanism
Somatic IDH1 or IDH2 mosaic mutations.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with Maffucci syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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