Maffucci syndrome
ORPHA: 163634
Overview
syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple cavernous hemangiomas and phleboliths
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Maffucci syndrome, sourced from HPO and Orphanet clinical annotations.
GoiterSubcutaneous noduleGrowth delayDysphagiaScoliosisBone painRecurrent fracturesOsteolysisPituitary adenomaParathyroid adenomaBreast carcinomaShort statureVenous thrombosisMultiple enchondromatosisChondrosarcomaCranial nerve paralysisHemangiomatosisAstrocytomaCerebral palsySarcomaOvarian neoplasmNeoplasm of the adrenal cortexNeoplasm of the parathyroid glandExostoses
Classification & Codes
Orphanet Code
ORPHA:163634Maffucci syndrome
| Orphanet | ORPHA:163634 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO