multiple epiphyseal dysplasia 1
MeSH: C535501ORPHA: 93308
Overview
multiple epiphyseal dysplasia that has material basis in heterozygous mutation in the COMP gene on chromosome 19p13
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 1, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceHip dysplasiaShort long boneArthralgia of the hipKnee painPostexertional symptom exacerbationLimitation of joint mobilityJoint stiffnessWaddling gaitDelayed epiphyseal ossificationOsteoarthritisAbnormal acetabulum morphologyDisproportionate short statureFinger joint hypermobilityAnkle painKnee joint hypermobilityCoxa varaGenu valgumGenu varumAvascular necrosis of the capital femoral epiphysis
Classification & Codes
MeSH Code
C535501Orphanet Code
ORPHA:93308multiple epiphyseal dysplasia 1
| MeSH | C535501 |
| Orphanet | ORPHA:93308 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO