This website uses cookies to give you the best experience. By continuing to use this website you are consenting to cookies being used. You can delete and block cookies from within your browsers settings. For more information please refer to our privacy and cookie policy page.


Downs Syndrome

Downs syndrome - Trisomy 21. Musculoskeletal features are common:

  • General hypotonia ('floppy baby').
  • Hypermobility.
  • Scoliosis.
  • Cervical spine instability.
  • Hip dislocation/subluxation.
  • Short stature.

Inflammatory arthritis and Downs syndrome

  • Down’s Arthritis is approximately 20 times more common than JIA in the general paediatric population.
  • There needs to be a high index of suspicion of arthritis when assessing a child with Downs syndrome presenting with behavioural change and/or deterioration in function and mobility.
  • Small joints, wrists and knees are the most commonly affected sites.
  • Down’s Arthritis may often be insidious and seemingly 'asymptomatic'.
  • A child with Down’s Arthritis may present with minimal clinical signs (i.e., no apparent joint pain, minimal joint swelling or early morning stiffness).
  • Look for subtle signs from clinical examination that may suggest a possible diagnosis of Down’s Arthritis, e.g., loss of range or loss of hyperextension, especially if there is asymmetry between both sides.  This may suggest restrictions from undiagnosed/untreated Down’s Arthritis.
  • MRI with gadolinium contrast should be the 'gold standard' for definitive diagnosis of Down’s Arthritis. Consider MRI if arthritis is suspected as clinically there can be little to aid with diagnosis.
  • Methotrexate intolerance is a significant barrier as a treatment for Down’s Arthritis.  When required, anti-TNF medication should be considered.
  • Children with Downs syndrome should have a musculoskeletal assessment as part of their Annual Surveillance Programme.
  • Uveitis risk is low in this patient cohort, and Rheumatoid Factor is always negative.


Site Statistics

To date (end of May 2022) PMM has >1,086,978 hits and >454,640 users from 223 countries!

Short online courses

from Newcastle University, UK

e-resources from PMM

pmm for you

Please help us ensure pmm is as useful to you as possible by completing this short survey

complete survey