multiple epiphyseal dysplasia

ORPHA: 166002

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain

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, 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:166002

multiple epiphyseal dysplasia

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