Maffucci syndrome
Findings
No curated finding names Maffucci syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013808), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HemangiomatosisHPOHP:0007461
- Very frequent (80% to 99% of cases)
- Multiple enchondromatosisHPOHP:0005701
- Very frequent (80% to 99% of cases)
- OsteolysisHPOHP:0002797
- Very frequent (80% to 99% of cases)
- Venous thrombosisHPOHP:0004936
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Frequent (30% to 79% of cases)
- ExostosesHPOHP:0100777
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Subcutaneous noduleHPOHP:0001482
- Frequent (30% to 79% of cases)
- AstrocytomaHPOHP:0009592
- Occasional (5% to 29% of cases)
- Breast carcinomaHPOHP:0003002
- Occasional (5% to 29% of cases)
- Cerebral palsyHPOHP:0100021
- Occasional (5% to 29% of cases)
Show the remaining 14
- ChondrosarcomaHPOHP:0006765
- 30% of reported patients
- Occasional (5% to 29% of cases)
- Cranial nerve paralysisHPOHP:0006824
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- GoiterHPOHP:0000853
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- Neoplasm of the adrenal cortexHPOHP:0100641
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IDH1HGNC:5382
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: Maffucci syndrome
- Also called
- chondrodysplasia with hemangiomaChondroplasia angiomatosisDyschondroplasia and cavernous hemangiomaenchondromatosis with hemangiomatahemangiomata with DyschondroplasiaMaffucci type enchondromatosisMaffucci's anomalad