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J Am Acad Orthop Surg, Vol 17, No 4, April 2009, 231-241.
© 2009 the American Academy of Orthopaedic Surgeons
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Achondroplasia: Manifestations and Treatment

Eric D. Shirley, MD and Michael C. Ain, MD

Dr. Shirley is Lieutenant Commander, Medical Corps, United States Navy, and Attending Pediatric Orthopaedic Surgeon, Naval Medical Center Portsmouth, Portsmouth, VA. Dr. Ain is Associate Professor, Departments of Orthopaedic Surgery and Neurosurgery, Johns Hopkins Hospital, Baltimore, MD.

None of the following authors or a member of their immediate families has received anything of value from or owns stock in a commercial company or institution related directly or indirectly to the subject of this article: Dr. Shirley and Dr. Ain.

Eric D. Shirley, MD, and Michael C. Ain, MD

Reprint requests: Dr. Ain, c/o Elaine P. Henze, BJ, ELS, Medical Editor, Department of Orthopaedic Surgery, Johns Hopkins Bayview Medical Center, 4940 Eastern Avenue, #A672, Baltimore, MD 21224.

Achondroplasia, the most common skeletal dysplasia, is caused by a mutation of fibroblast growth factor receptor-3. This disorder is characterized by frontal bossing, midface hypoplasia, otolaryngeal system dysfunction, and rhizomelic short stature. Orthopaedic manifestations are exhibited in the spine and the extremities. In the infant with achondroplasia, foramen magnum stenosis may result in brainstem compression with apnea and sudden death. Thoracolumbar kyphosis is seen in most infants, but typically it resolves when the child begins to walk. Anatomic anomalies of the vertebral column place the patient at risk for spinal stenosis as early as the first decade and especially during adulthood. Radial head dislocation is one manifestation in the upper extremity. Lower extremity alignment often is characterized by genu varum, which may require correction osteotomy. Medical and surgical options are available to increase patient height, but indications are controversial, and treatment often consumes a large portion of the child’s life.






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