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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

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