Spondyloepimetaphyseal dysplasia, Irapa type
Spondyloepimetaphyseal dysplasia, Irapa type
Definition
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.
Also known as SEMD, Irapa type, spondyloepimetaphyseal dysplasia, Irapa type — per MONDO