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. Key Concepts: • Musculoskeletal manifestations in Down syndrome are related to generalized ligamentous laxity and can be variable in presentation at almost every anatomic level. • Subsequent management of orthopaedic conditions such as patella instability, pes planus, and hallux valgus are driven by symptoms. A high index of suspicion should be maintained for other associated conditions such as cervical instability, scoliosis, hip instability or SCFE as a subtle presentation is common. • Surgical management can be complicated by the pathologic laxity present in patients with Down syndrome and a multidisciplinary and multisystem approach should accompany any surgical treatment. • The orthopaedist may be the first to evaluate a Down patient for systemic disorders such as hypothyroidism, leukemia, and inflammatory arthritis. These comorbidities can have profound negative effects if missed.