metachondromatosis

MeSH: C562938ORPHA: 2499

Overview

a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions

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 metachondromatosis, sourced from HPO and Orphanet clinical annotations.

Abnormal metaphysis morphologyBone painMultiple enchondromatosisAbnormal epiphysis morphologyCranial nerve paralysisAvascular necrosisExostoses

Classification & Codes

MeSH Code

C562938

Orphanet Code

ORPHA:2499
metachondromatosis
MeSHC562938
OrphanetORPHA:2499
Treatments0 drug(s)
Symptoms on record7 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO