Medical Term:

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.

Hide
(web3)