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.
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.
Spondyloepiphyseal dysplasia congenita syndrome: anesthetic implications.
The star, who was born with a rare form of dwarfism called Spondyloepiphyseal dysplasia congenita, said he had noticed a shift in the parts he was being offered.
2 His dwarfism is an extremely rare genetic condition called SED (Spondyloepiphyseal dysplasia congenita), while his wife Samantha (below) has the more common achondroplasia.
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