Spondyloperipheral dysplasia
MeSH: C535799ORPHA: 1856
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 Spondyloperipheral dysplasia, sourced from HPO and Orphanet clinical annotations.
Cleft palateHearing impairmentMyopiaAbnormal hip joint morphologyHypoplasia of the ulnaFlattened epiphysisDisproportionate short statureAbnormality of the vertebral endplatesType E brachydactylyDelayed pubic bone ossificationIrregular epiphysesAplasia/hypoplasia involving bones of the extremitiesCataractRetinal detachmentPlatyspondylyLimited elbow extensionHip dysplasiaTalipesOvoid vertebral bodiesArthralgia of the hipFlattened femoral headBroad halluxShort metatarsal
Classification & Codes
MeSH Code
C535799Orphanet Code
ORPHA:1856Spondyloperipheral dysplasia
| MeSH | C535799 |
| Orphanet | ORPHA:1856 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO