Spondyloepimetaphyseal Dysplasia, Irapa Type

Clinical Features

Arias et al. (1976) described a seemingly new form of skeletal dysplasia among the Irapa Indians of Venezuela. Features included short spine from platyspondyly, short metacarpals and metatarsals, and striking changes in the proximal femoral and distal humeral epiphyses.

Hernandez et al. (1980) described SEMDIT in 3 sibs from a Mexican mestizo family. Arias (1981) suggested SEMI as a simple designation.