Achondroplasia: clinical features, pathophysiology and management

Abstract

Achondroplasia is the most common skeletal dysplasia, arising from a gain-of-function variant in FGFR3 that disrupts endochondral ossification and results in a highly conserved pattern of skeletal dysmorphology. Although short stature is the most visible feature, the clinical burden extends well beyond growth: a developmentally narrow craniospinal canal, altered vertebral morphology and abnormal limb alignment generate a substantial lifetime surgical burden that begins in infancy and continues into adulthood. This review covers the pathophysiology, diagnostic pathway and principal complications relevant to orthopaedic practice. Foramen magnum stenosis and sleep-disordered breathing require active surveillance from birth and must be formally assessed before any elective intervention. Spinal complications, including thoracolumbar kyphosis and lumbar stenosis, follow a broadly predictable natural history, while lower-limb malalignment and ligamentous laxity contribute to progressive functional limitation across the lifespan. Orthopaedic input in achondroplasia in children primarily focuses on restoration of the mechanical axis via guided growth or osteotomies but limb lengthening in upper and/or lower limbs can also be offered. The therapeutic landscape has shifted considerably with the introduction of disease-modifying pharmacotherapy. These agents are now part of routine care for many children with achondroplasia in some countries and have implications for surgical planning that orthopaedic teams need to be aware of. Safe, effective management of achondroplasia requires structured, anticipatory surveillance and close coordination within a specialist medical team throughout life.