Purpose of review: A summary of management and current research in achondroplasia (OMIM 100800). The most common nonlethal skeletal dysplasia, achondroplasia presents a distinct clinical picture evident at birth. Substantial information is available concerning the natural history of this dwarfing disorder. Diagnosis is made by clinical findings and radiographic features. Characteristic features include short limbs, a relatively large head with frontal bossing and midface hypoplasia, trident hands, muscular hypotonia, and thoracolumbar kyphosis. Children commonly have recurrent ear infections, delayed motor milestones, and eventually develop bowed legs and lumbar lordosis. People with achondroplasia are generally of normal intelligence.
Recent findings: The genetic cause of achondroplasia was discovered in 1994. Subsequent research efforts are designed to better characterize the underlying possible biochemical mechanisms responsible for the clinical findings of achondroplasia as well as to develop possible new therapies and/or improve intervention.
Summary: Establishing a diagnosis of achondroplasia allows families and clinicians to provide anticipatory care for affected children. Although the primary features of achondroplasia affect the skeleton, a multidisciplinary approach to care for children with achondroplasia helps families and clinicians understand the clinical findings and the natural history of achondroplasia in order to improve the outcome for each patient.