spondyloepimetaphyseal dysplasia, Missouri type
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.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
Missouri type of spondyloepimetaphyseal dysplasia
related
SEMD Missouri type
related
SEMD type 2
exact
SEMD, Missouri type
exact
spondyloepimetaphyseal dysplasia Missouri type
related
spondyloepimetaphyseal dysplasia type 2
exact
spondyloepimetaphyseal dysplasia, Missouri type
exact