Orthopaedic Management in Down Syndrome

Abstract

Down syndrome is the most common chromosomal disorder and typically results from a maternal duplication of chromosome 21 yielding trisomy 21. General features include a flat facial profile, short stature, oblique palpebral fissures, epicanthal folds, and associated medical conditions such as congenital heart disease, vision problems, and hearing loss.  Most musculoskeletal manifestations of Down syndrome are related to generalized ligamentous laxity, joint hypermobility, and hypotonia which can lead to atlantoaxial instability, atlanto-occipital instability, scoliosis, spondylolisthesis, hip dysplasia / instability, patellar instability, pes planus, and hallux valgus.  Importantly, the orthopaedist may also be the first to discover systemic conditions such as hypothyroidism associated with slipped capital femoral epiphysis (SCFE) or leukemia or inflammatory arthritis leading to musculoskeletal pain .  The purpose of this review is to summarize what the orthopaedist needs to remember when evaluating and treating their patients with Down Syndrome.