spondyloepiphyseal dysplasia congenita


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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.
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