spondyloepimetaphyseal dysplasia, Missouri type
ORPHA: 93356
Overview
spondyloepimetaphyseal dysplasia that has material basis in mutations in the MMP13 gene which results in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities
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 spondyloepimetaphyseal dysplasia, Missouri type, sourced from HPO and Orphanet clinical annotations.
Genu varumFemoral bowingTibial bowingFlared metaphysisMetaphyseal irregularityFlattened epiphysisDisproportionate short staturePear-shaped vertebraeKnee osteoarthritisShort lower limbsSmall epiphysesThick growth plates
Classification & Codes
Orphanet Code
ORPHA:93356spondyloepimetaphyseal dysplasia, Missouri type
| Orphanet | ORPHA:93356 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO