Musculoskeletal issues


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.

Inflammatory arthritis

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:

Pes Planus

Scoliosis, particularly post thoracotomy

Cranio-vertebral instability (This topic is covered separately on the website)

Cervical arthropathy

Lumbar spondylolysis and spondylolisthesis

Hip instability including subluxation and dislocation

Slipped upper femoral epiphysis

Perthes Disease

Osteoarthritis of the hip

Patellofemoral Instability

Congenital talipes equino varus

Metatarsus Primus varus and associated hallux valgus and varus

DSMIG Guidance

Cervical spine disorders:Craniovertebral instability

Basic Medical Surveillance Essentials for people with Down syndrome

Last updated: March 2012

Inflammatory Arthropathy Keypoints

based on a presentation by Dr. Janet Gardner-Medwin. DSMIG Glasgow. May 2007

Presentations at DSMIG Meetings

Orthopaedic Problems

Miss Sally Tennant

15th May 2013, London

Inflammatory Arthritis of Down Syndrome


24TH May 2017, RCPCH, Liverpool

Additional Resources

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

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 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