Contemporary Management of the Pediatric Patient With Achondroplasia


Achondroplasia is the most common human skeletal dysplasia. Its etiology is usually a single mutation on the gene encoding fibroblast growth factor receptor-3 (FGFR-3), resulting in the inhibition of chondrocyte proliferation at the growth plates of the body's long bones. The clinical manifestations of achondroplasia are diverse, with the classic presentation being short stature with disproportionate shortening of the limbs. Nonorthopaedic manifestations of achondroplasia include hydrocephalus, obstructive sleep apnea, recurrent otitis media, conductive hearing loss, and obesity. Its orthopaedic manifestations include disorders of the spine and extremities. In the pediatric patient with achondroplasia, stenosis of the foramen magnum, with cervicomedullary compression, thoracolumbar kyphosis, and lumbar spinal stenosis, are common conditions and may require surgical management. Limb-lengthening surgery for patients with achondroplasia remains controversial, with unproven clinical outcomes. Care for the child with achondroplasia should be multidisciplinary to ensure that the myriad medical issues that may arise from the condition are adequately addressed.

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