spondyloepiphyseal dysplasia—Kimberley type

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spondyloepiphyseal dysplasia—Kimberley type2016-11-28T06:11:26+00:00

spondyloepiphyseal dysplasia—Kimberley type


Definition An autosomal dominant form (OMIM:608361) of spondyloepiphyseal dysplasia* characterised by proportionate short stature (< 5th percentile for age), stocky habitus and progressive degenerative osteoarthropathy of weight-bearing joints. 

*Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. 

Imaging Prominent endplate irregularity and sclerosis of the vertebral bodies.

Molecular pathology Defects of ACAN, which encodes aggrecan, a proteoglycan that is an integral part of the extracellular matrix in cartilage where it provides compressive resistance, cause spondyloepiphyseal dysplasia—Kimberley type, 

References http://www.uniprot.org/uniprot/P16112


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