spondyloepiphyseal dysplasia congenita

(redirected from SED, congenital type)

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.