spondyloepiphyseal dysplasia congenita


Also found in: Acronyms, Wikipedia.

spondyloepiphyseal dysplasia congenita

An autosomal condition of neonatal onset (OMIM:183900) characterised by shortened trunk, neck and proximal extremities, barrel chest, spinal involvement, and variably accompanied by myopia and retinal detachment.

Molecular pathology
SEDC is caused by a mutation of COL2A1.
References in periodicals archive ?
The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
Full browser ?