Conditions / Genetic
spondyloepimetaphyseal dysplasia, Missouri type
info · Genetic
A 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.
Signs and symptoms
- Tibial bowing
- Flared metaphysis
- Flared, irregular rib ends
- Pear-shaped vertebrae
- Limited elbow extension
- Rhizomelia
- Femoral bowing
- Spondyloepimetaphyseal dysplasia
- Delayed skeletal maturation
- Genu varum