Skip to Content

spondyloepiphysial dysplasia congenita


Definition: a skeletal dysplasia characterized by short-trunk dwarfism with short limbs, delayed ossification of the pubic rami and femoral and tibial epiphyses, flattening of the vertebral bodies, myopia, retinal detachment, and cleft palate; autosomal dominant inheritance caused by mutation in the type II collagen gene (COL2A1) on 12q.

Further information

Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.