spondyloepiphyseal dysplasia congenita

(redirected from SED congenita)

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 ?
There are two variants of the disorder: SED congenita and SED tarda.
All of these featu res were consistent with a very narrow range of differential diagnoses, of which SED congenita was the most likely, followed by multiple epiphyseal dysplasia and type IV mucopolysaccharidosis (Morquio's syndrome).