Overview
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 in assessment of 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.
Childhood
Motor milestones are often delayed, in part due to hypotonia and lack of coordination. Joint laxity can affect balance. Supportive shoes or boots, insoles and splints may be of benefit.
Foley and Killeen (2018) reported 91% of the 503 children they observed had pes planus, 7% inflammatory arthritis and 4.8% scoliosis. Median age to walk was 28 months.
Other conditions with an increased prevalence in children with Down syndrome include Perthe’s disease, SUFE (Slipped Upper Femoral Epiphysis), subluxation or dislocation of the hip, patellofemoral instability and congenital talipes equinovarus.
Inflammatory arthritis of Down syndrome
Also known as Down’s arthropathy (not the preferred term), 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.
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.
Adulthood
The increased risk of joint instability and injury persist, with an increased risk of osteoporosis and fractures. Rheumatoid arthritis, osteoarthritis, hallux valgus, scoliosis, spondylosis and spondylolisthesis, cranio-vertebral instability (covered separately) and cervical arthopathy are also seen more commonly than in the general population
Updated by Dr. Liz Herrieven
Consultant In Paediatric Emergency Medicine
February 2025
DSMIG Guidance
Cervical spine disorders:Craniovertebral instability
Basic Medical Surveillance Essentials for people with Down syndrome
Last updated: March 2012
Presentations at DSMIG Meetings
Miss Sally Tennant
15th May 2013, London
Additional Resources
Foley C, Killeen OG. Musculoskeletal anomalies in children with Down syndrome: an observational study. Arch Dis Child. 2019 May;104(5):482-487. doi: 10.1136/archdischild-2018-315751. Epub 2018 Nov 24. PMID: 30472668; PMCID: PMC6557226. https://pmc.ncbi.nlm.nih.gov/articles/PMC6557226/
Foley CM, Deely DA, MacDermott EJ, Killeen OG. Arthropathy of Down syndrome: an under-diagnosed inflammatory joint disease that warrants a name change. RMD Open. 2019 Jun 3;5(1):e000890. doi: 10.1136/rmdopen-2018-000890. PMID: 31245048; PMCID: PMC6560675. https://pmc.ncbi.nlm.nih.gov/articles/PMC6560675/
Down’s Syndrome Association information: bones and muscles https://www.downs-syndrome.org.uk/about-downs-syndrome/health-and-wellbeing/bones-and-muscles/
Down’s Syndrome Association Health Series: Orthopaedic Issues (2018) https://www.downs-syndrome.org.uk/wp-content/uploads/2020/06/Orthopaedic-Issues-21st-March-KP-3rd-July-SM_DSMIG.pdf
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
Book Chapter – Musculoskeletal manifestations In
Down Syndrome – Current Perspectives, MacKeith Press 2014, Edited by Richard Newton , Shiela Puri and Liz Marder