spondyloepiphyseal dysplasia, Kimberley type
MeSH: C564252ORPHA: 93283
Overview
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy
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 spondyloepiphyseal dysplasia, Kimberley type, sourced from HPO and Orphanet clinical annotations.
PlatyspondylySpondyloepiphyseal dysplasiaOsteoarthritisMicromeliaProportionate short statureAbnormal epiphysis morphologyShort thorax
Classification & Codes
MeSH Code
C564252Orphanet Code
ORPHA:93283spondyloepiphyseal dysplasia, Kimberley type
| MeSH | C564252 |
| Orphanet | ORPHA:93283 |
| Treatments | 0 drug(s) |
| Symptoms on record | 7 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO