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Gene Disorders

There are several examples of single gene disorders with musculoskeletal features and a comprehensive list is beyond the scope of this module. The disorders listed below are examples of those conditions with inflammatory arthritis, those with contractures, and those with hypermobility.

There may be a spectrum of severity and not all features may be present. 

Many of the presentations are found in several of the conditions. 

These children require multi-professional and multi-disciplinary management.

Cystic Fibrosis - autosomal recessive

  • Arthralgia
  • Inflammatory arthritis
  • Hypertrophic pulmonary osteoarthropathy

Mucopolysaccharidoses - autosomal recessive

  • Joint contractures (often upper limb), 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
  • Arachnodactyly
  • Pectus excavatum/carinatum,
  • Pes planus
  • High arched palate
  • Protrusio acetabulae

Duchenne Muscular Dystrophy - X linked recessive

  • Abnormal Gait / delayed walking 
  • Proximal muscle weakness
  • Scoliosis
  • Limp and toe walking

Hypophosphataemic or Vitamin D resistant Rickets - X linked recessive

  • Bow legs 
  • Joint pain
  • Limp

Haemophilias (A and B) - X linked recessive 

  • Haemarthrosis 

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