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,