spondyloepimetaphyseal dysplasia Missouri type

spondyloepimetaphyseal dysplasia Missouri type

An autosomal dominant (OMIM:602111) bone disease characterised by moderate to severe metaphyseal changes, mild epiphyseal involvement (both of which improve with age), rhizomelic shortening of the legs with femoral and/or tibial bowing, coxa vara, genu varum, and pear-shaped vertebrae.

Molecular pathology
Defects in MMP13, which encodes matrix metalloproteinase 13, cause SEMD-MO.
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