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Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. The prevalence is approximately 1 per 100,000 live births. Males and females are equally affected. Clinical manifestations may include short stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial features, hypertelorism, eye abnormalities (nystagmus, congenital cataracts, glaucoma, retinal detachment), decreased hearing, and characteristic radiologic findings (flattened vertebral bodies, flat acetabular roof, delayed ossification of the femoral heads with degenerative changes). Decreased joint mobility and arthritis often develop early in life. Intelligence is usually unaffected. SEDC is caused by mutation in the COL2A1 gene (locus 12q13.11-q13.2). The inheritance is autosomal dominant. |