enchondromatosis
ICD-10: Q78.4MeSH: D004687ORPHA: 296
Overview
human disease
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 enchondromatosis, sourced from HPO and Orphanet clinical annotations.
Abnormal metaphysis morphologyHemangiomaAbnormal cartilage morphologyOsteolysisMicromeliaMultiple enchondromatosisVisceral angiomatosisJoint stiffnessSubcutaneous noduleBone painFacial asymmetryScoliosisNeoplasmPathologic fractureGenu valgumCubitus valgusGenu varumMadelung deformityVenous thrombosisChondrosarcomaCranial nerve paralysisSarcomaLower limb asymmetryUpper limb asymmetryLymphangiomaSkin ulcer
Classification & Codes
ICD-10 Code
Q78.4MeSH Code
D004687Orphanet Code
ORPHA:296enchondromatosis
| ICD-10 | Q78.4 |
| MeSH | D004687 |
| Orphanet | ORPHA:296 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO