Multiple epiphyseal dysplasia and related disorders

Abstract

Genetic developmental disorders of the skeleton are individually rare but together constitute an important area of orthopaedic practice. The multiple epiphyseal dysplasias represent a subgroup of these conditions in which endochondral ossification is disrupted by defects that are primarily in cartilage metabolism in the developing skeleton. The ends of the tubular bones (epiphyses) and articular cartilage are particularly affected; this is manifest variably as short stature (sometimes disproportionate), abnormal joint structure, angular deformities of the joints and long bones, and premature degenerative arthritis. The genes responsible for most of these conditions have been identified in the past 40 years but current medical treatments are still largely limited to providing symptomatic relief. In childhood, orthopaedic intervention is sometimes required to correct major structural abnormalities of the joints or for limb realignment. Premature osteoarthritis is a common consequence of many of these disorders and joint replacement surgery (particularly hips but also knees) is quite commonly required in early adult life for those with the more severe variants of these conditions. This review provides a framework for distinguishing the various forms of multiple epiphyseal dysplasia, their underlying causes, and the principles of medical and surgical treatment.