metaphyseal chondrodysplasia, Spahr type
MeSH: C537353ORPHA: 2501
Overview
human disease
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 metaphyseal chondrodysplasia, Spahr type, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionCarious teethAbnormal metaphysis morphologyGait disturbanceHip dysplasiaScoliosisDelayed skeletal maturationGenu varumHyperlordosisDisproportionate short statureReduced bone mineral densityMetaphyseal chondrodysplasiaAbnormal epiphysis morphologyShort lower limbsProgressive leg bowingBowing of the long bonesMetaphyseal dysplasia
Classification & Codes
MeSH Code
C537353Orphanet Code
ORPHA:2501metaphyseal chondrodysplasia, Spahr type
| MeSH | C537353 |
| Orphanet | ORPHA:2501 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO