Endocrine Abstracts

The skeletal dysplasias are a heterogeneous group of over 450 conditions characterised by abnormalities in growth, development, or differentiation of the skeleton. They are classified according to the International Nosology and Classification of Genetic Skeletal Disorders into 40 different classes reflecting the broad range of phenotypes which vary in severity from perinatal lethality to mild short stature. Broadly, they can be divided into conditions affecting bone mineral homeostasis (osteodysplasias), disorders affecting a single bone or group of bones (dysostoses) or conditions resulting from abnormal cartilage development leading to deranged development of bone and growth (chondrodysplasias).

Many will present with abnormal growth in childhood but complications such as joint deformity and early-onset osteoarthritis add to the disease burden in adult patients.

Elucidation of the genetic mechanisms underlying these disorders has allowed us to understand more about their aetiology and directed research into potential therapeutic options. I will present a practical clinical approach to the diagnosis of disorders of skeletal development and will discuss relevant features in the history and examination and appropriate investigation. I will touch upon management of more common conditions and future avenues of therapy.