The genetic basis of the osteochondrodysplasias

The osteochondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth and remodeling of cartilage and bone, affecting from 2 to 4.7 per 10,000 individuals. Most osteochondrodysplasias are heritable and many have elaborate patterns of genetic transmission. Affected individuals generally require management by multidisciplinary teams of specialists. In this review, we divide the osteochondrodysplasias into groups based on their genetic relationships, including mutations in various types of collagen, fibroblast growth factor, cartilage oligomeric matrix protein, parathyroid hormone receptor, the diastrophic dysplasia sulfate transporter, enzymes such as steroid sulfatases, transcription factor SOX9, and a cysteine proteinase, cathepsin K. We describe the major osteochondrodysplasias, define their causes and clinical manifestations, and provide the orthopaedic surgeon with an understanding of the underlying molecular defects as well as the anatomical aspects of these disorders.