label: spondyloepimetaphyseal dysplasia, Missouri type
label_lc: spondyloepimetaphyseal dysplasia, missouri type
description: 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.