Schmid metaphyseal chondrodysplasia
MeSH: C537352ORPHA: 174
Overview
metaphyseal dysplasia that results in dwarfism and bowed legs
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 Schmid metaphyseal chondrodysplasia, sourced from HPO and Orphanet clinical annotations.
Waddling gaitCoxa varaMetaphyseal cuppingMetaphyseal irregularityAbnormal proximal femoral metaphysis morphologyLimb undergrowthThick growth platesAbnormal distal femoral metaphysis morphologyAnterior rib cuppingShort tubular bones of the handHip dysplasiaGenu varumFemoral bowingFlared metaphysisShort long boneProximal femoral metaphyseal irregularityWidened proximal tibial metaphysesAbnormal hand metaphysis morphologyMetaphyseal cupping of metacarpalsMetaphyseal cupping of proximal phalangesOsteosclerosis of ribsDisproportionate short-limb short statureBroad proximal phalanges of the handDistal femoral metaphyseal irregularityPlatyspondylyObesityArthralgiaLumbar hyperlordosisBowing of the legsIrregular vertebral endplatesAbnormal vertebral morphologyRadial metaphyseal irregularityUlnar metaphyseal irregularity
Classification & Codes
MeSH Code
C537352Orphanet Code
ORPHA:174Schmid metaphyseal chondrodysplasia
| MeSH | C537352 |
| Orphanet | ORPHA:174 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO