Musculoskeletal problems are commonly seen in people with Down syndrome due to low muscle tone, lax ligaments and hypermobile joints. The overexpression of the genes for collagen type VI, COL6A1 and COL6A2, is encoded on chromosome 21. As collagen type VI is present in almost all connective tissues i.e. ligaments, muscle, bone and cartilage etc. this is the likely cause for the increased prevalence of musculoskeletal disorders in people with Down syndrome.
Identification of musculoskeletal problems can be a challenge and is often delayed due to diagnostic overshadowing and difficulties of young people with Down syndrome vocalising pain.
A musculoskeletal assessment should be included as a part of the annual health examination to enable early identification and management of musculoskeletal disorders.
In addition, associated low bone mineral density can predispose to fractures and can make fixation with orthopaedic implants challenging. Obesity may also exacerbate pain in the joints and make surgery more challenging, along with an increased rate of infection in people with Down syndrome. This implies that appropriate antibiotic prophylaxis may be necessary.
An 18-month observational study, involving 503 children (0.6 – 19 years), undertaken by Foley and Killeen (2018), reported musculoskeletal disorders to be commonly present, with pes planus occurring in 91%, inflammatory arthritis (7%) and scoliosis (4.8%) of the cohort.
This is considered to be 18-21 times more common than Juvenile Idiopathic Arthritis in the general population. It is important to have a high index of suspicion, particularly if there is a change or deterioration in motor function and look for subtle signs.
An annual formal musculoskeletal examination is recommended.
Early onset osteoporosis
Bone health in people with Down syndrome can be affected from an early age (e.g. 7- 10 years). Exercise, optimum intake of calcium and Vitamin D, is important to prevent early onset osteoporosis.
Orthopaedic problems more commonly seen in Down syndrome include:
Scoliosis, particularly post thoracotomy
Cranio-vertebral instability (This topic is covered separately on the website)
Lumbar spondylolysis and spondylolisthesis
Hip instability including subluxation and dislocation
Slipped upper femoral epiphysis
Osteoarthritis of the hip
Congenital talipes equino varus
Metatarsus Primus varus and associated hallux valgus and varus
Basic Medical Surveillance Essentials for people with Down syndrome
Last updated: March 2012
based on a presentation by Dr. Janet Gardner-Medwin. DSMIG Glasgow. May 2007
Presentations at DSMIG Meetings
Miss Sally Tennant
15th May 2013, London
Inflammatory Arthritis of Down Syndrome
24TH May 2017, RCPCH, Liverpool
Musculoskeletal anomalies in children with Down syndrome: an observational study Foley C, Killeen OG, Archives of Disease in Childhood, Published Online First: 24 November 2018. doi: 10.1136/archdischild-2018-315751
Talbot C., Alshryda S. (2017) Evidence-Based Treatment for Musculoskeletal Disorders in Children with Down’s Syndrome. In: Alshryda S., Huntley J., Banaszkiewicz P. (eds) Paediatric Orthopaedics. Springer, Cham https://doi.org/10.1007/978-3-319-41142-2_50
Inflammatory Arthritis of Down syndrome. Article in Down’s Syndrome Association Journal 138 Autumn Winter 2018
Orthopaedics Issues Article in Down’s Syndrome Association Journal 132 Autumn Winter 2016
Down syndrome association Health Series https://www.downs-syndrome.org.uk/download-package/orthopaedic-issues/. last accessed 28.3.2018
Book Chapter – Musculoskeletal manifestations In Down Syndrome – Current Perspectives, MacKeith Press 2014, Edited by Richard Newton , Shiela Puri and Liz Marder
Updated by Dr. Shiela Puri
Consultant Community Paediatrician
March 28, 2019