This website used 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.

Continue

Chromosomal Abnormalities

Abnormalities of the musculoskeletal system are seen in a number of genetic conditions (chromosomal, single gene and mitochondrial disorders). Features may present at birth (e.g. hypotonia), but often may become more apparent during childhood (e.g. hypermobility, camptodactyly).

Down's syndrome - Trisomy 21 - can associate with a spectrum of musculoskeletal features. These include; 

  • General hypotonia
  • Hypermobility
  • Scoliosis
  • Inflammatory arthritis
  • Cervical spine instability
  • Hip dislocation/subluxation
  • Short stature 

DiGeorge syndrome - 22q11 deletion - can associate with a spectrum of musculoskeletal features which include; 

  • Inflammatory arthritis
  • Scoliosis
  • Short stature
  • Micrognathia

Turner’s syndrome – 46XO - can associate with various musculoskeletal features which include; 

  • Cubitus valgus at the elbow
  • Short stature / webbed neck
  • Madelung deformity at the wrist 
  • Short 4th metacarpals
  • RF +ve JIA

Why register?

Some parts of pmm India which involve pictures or videos of children, can only be viewed by registered users. Registering also allows you to bookmark favourite pages and track your viewing.

find out more

pmm for you

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

complete survey