Skeletal Dysplasias and Heritable Connective Tissue Disorders

Skeletal dysplasias and heritable connective tissue disorders are groups of disorders that can present in the newborn period as well as later in childhood. The severity of these conditions can range from mild to perinatal lethal. Due to their relative rarity, these conditions are not commonly encountered, and within each group, clinical findings can overlap. Advances in molecular diagnostics have helped us distinguish these conditions from one another and provide insight into their pathogenesis on the cellular level. This chapter briefly describes the more commonly encountered entities, including physical and radiographic findings, diagnostic approaches, clinical management, and developing pharmacologic therapies.