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Spondyloepimetaphyseal dysplasia, Missouri type
rareA spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
- Identifiers
- MONDO:0011198 OMIM:602111Orphanet:93356
- Causal genes
- MMP13
- Part of
- Spondyloepimetaphyseal dysplasia
- Also known as
- Missouri type of spondyloepimetaphyseal dysplasia · SEMD Missouri type · SEMD type 2 · SEMD, Missouri type · spondyloepimetaphyseal dysplasia Missouri type
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