The skeletal dysplasias

Abstract

The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) that comprise the human skeleton. Many result in disproportionate short stature. The classification of these disorders has evolved over the past 30 years from purely clinical-pathological descriptions to a nosology that now also reflects their underlying molecular aetiology. Accurate diagnosis of these disorders requires comprehensive documentation of the history, analysis of longitudinal growth patterns, rigorous clinical evaluation of the individual and family, complete radiographic survey and, when available, examination of chondro-osseous specimens. The specific genetic defects underlying many of these conditions have now been elucidated, allowing links to be established between phenotype and genotype. Management revolves around treatment to prevent or minimize medical complications, psychosocial support of patients and their families, education of the medical profession and wider community and modification of the environment where appropriate.