autosomal recessive multiple epiphyseal dysplasia
MeSH: C535504ORPHA: 93307
Overview
medical condition
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 autosomal recessive multiple epiphyseal dysplasia, sourced from HPO and Orphanet clinical annotations.
Skeletal dysplasiaMultiple epiphyseal dysplasiaArthralgiaMicrognathiaBrachydactylyFlexion contractureLimitation of joint mobilityJoint stiffnessTalipes equinovarusBilateral talipes equinovarusWaddling gaitCoxa varaGenu valgumElbow flexion contractureFlattened epiphysisPremature osteoarthritisArthralgia of the hipDisproportionate short statureAccelerated skeletal maturationAcetabular dysplasiaModerately short statureUpper limb undergrowthFlattened femoral epiphysisDouble-layered patellaCleft palateHigh palateAbnormal earlobe morphologyLow-set earsAbnormal pinna morphologyHip dysplasiaMetatarsal synostosisBroad footShort toeScoliosisCervical kyphosisRadial bowingMetaphyseal wideningUlnar bowingFlattened radial epiphysesAbnormal ulnar epiphysis morphologyAbnormal hand morphologyBroad femoral neckHypoplastic cervical vertebraeDelayed femoral head ossificationRhizomeliaShort fingerContracture of the proximal interphalangeal joint of the 3rd fingerUlnar deviation of the handShort thumbShort metacarpalShort metatarsalStiff ankleAcroparesthesiaAcromicriaSkewfootAbnormal forearm bone morphologyShort femoral neckHip dislocation
Classification & Codes
MeSH Code
C535504Orphanet Code
ORPHA:93307autosomal recessive multiple epiphyseal dysplasia
| MeSH | C535504 |
| Orphanet | ORPHA:93307 |
| Treatments | 0 drug(s) |
| Symptoms on record | 58 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO