Spondyloepimetaphyseal Dysplasia, Irapa Type

Spondyloepimetaphyseal dysplasia, Irapa type 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.

Epidemiology

The syndrome has been described among Venezuelan Indians of the Yukpa (Irapa) tribe and three sibs from a Mexican mestizo family.

Etiology

Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.