spondyloepimetaphyseal dysplasia, Irapa type
A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
SEMD, Irapa type
exact
SEMDIT
related
spondyloepimetaphyseal dysplasia, Irapa type
exact