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Genetic Diseases

Abnormalities of the musculoskeletal system are seen in a number of genetic conditions.

There may be a spectrum of severity and not all features may be present. There may be a family history of similar problems. Multi-professional and multi-disciplinary management is needed. 

Downs syndrome - Trisomy 21

Mucopolysaccharidoses - autosomal recessive:

  • Joint contractures but can also be some forms with hypermobility.
  • Claw hand / trigger fingers / Carpal Tunnel syndrome.
  • Scoliosis / kyphosis / toe walking.
  • Delayed milestones / delayed walking / abnormal gait. 
  • Other systems can be affected (e.g. recurrent chest or ear infections, heart valve problems, herniae).

Achondroplasia - autosomal dominant:

  • Shortened limbs and dwarfism.
  • Bow legs.

Marfan's syndrome - autosomal dominant: 

  • Tall stature, disproportionately long limbs and fingers.
  • Abnormal chest wall shape (Pectus excavatum/carinatum).
  • Hypermobility. 
  • High arched palate / prone to dislocation of the lens in the eye. 
  • Risk of cardiac complications (aortic dissection, aortic valve problems).

Duchenne Muscular Dystrophy - X linked recessive:

  • Affects males. 
  • Abnormal Gait / delayed walking / eating and speech difficulties.
  • Proximal muscle weakness.
  • Limp and toe walking.

Haemophilias (A and B) - X linked recessive: 

  • Bleeding into joints / soft tissue bleeds.

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