spondyloepiphysial dysplasia congenita

spondyloepiphysial dysplasia congenita (SEDC),

[MIM*183900]
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.

spon·dy·lo·ep·i·phy·si·al dys·pla·sia con·gen·i·ta

(SEDC) (spon'di-lō-ep'i-fiz'ē-ăl dis-plā'zē-ă kŏn-jen'i-tă)
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; autosomaldominant inheritance caused by mutation in the type II collagen gene (COL2A1) on 12q.

Full browser ?