Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia, Missouri type
Definition
A 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.
Also known as SEMD type 2, SEMD, Missouri type, spondyloepimetaphyseal dysplasia type 2, spondyloepimetaphyseal dysplasia, Missouri type — per MONDO