spondyloepiphyseal dysplasia with congenital joint dislocations

MeSH: C537283ORPHA: 1792

Overview

spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

C537283

Orphanet Code

ORPHA:1792
spondyloepiphyseal dysplasia with congenital joint dislocations
MeSHC537283
OrphanetORPHA:1792
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO