Catalog

Spondyloepimetaphyseal dysplasia, Irapa type

No MMS code

Link to WHO Definition

Spondyloepimetaphyseal dysplasia, Irapa type – http://id.who.int/icd/entity/1355637988

Spondyloepimetaphyseal dysplasia (SEMD), Irapa type is a form of SEMD characterised 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.

Parents