multiple epiphyseal dysplasia due to collagen 9 anomaly
ORPHA: 166002
Overview
multiple epiphyseal dysplasia that has material basis in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3)
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 multiple epiphyseal dysplasia due to collagen 9 anomaly, sourced from HPO and Orphanet clinical annotations.
Abnormal epiphysis morphologyArthralgia of the hipLimb undergrowthReduced arm spanKnee painPostexertional symptom exacerbationWaddling gaitOsteoarthritisCoxa varaAbnormality of the kneeGenu valgumGenu varumAbnormality of the ankleAbnormal patella morphologyAbnormal elbow epiphysis morphologyAbnormal radial epiphysis morphologyShort statureUlnar deviated club handsRadially deviated wristsFragmented metacarpal epiphysisAbnormality of the epiphyses of the feetBilateral coxa valgaMuscle weaknessMyopathy
Classification & Codes
Orphanet Code
ORPHA:166002multiple epiphyseal dysplasia due to collagen 9 anomaly
| Orphanet | ORPHA:166002 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO