Britttle Bone Disease

Osteogenesis imperfecta

What is it? / Causes

  • a group of rare disorders affecting the connective tissue
  • extremely fragile bones that break or fracture easily with no apparent cause
  • Inherited as autosomal dominant traits due to a mutation in one of the type 1 collagen genes
  • Only one copy of the mutation carrying gene is needed to have OI
  • either inherited from a parent or is caused by a spontaneous mutation

Symptoms


  • Bone fracture easily, usually early to late childhood
  • Abnormal structure
  • loose joints
  • curvature in spine
  • barrel shaped rib cage
  • not enough collagen
  • breathing problems
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Interesting Fact/ Prevention

  • There are 8 different types of OI
  • Type 1 is the most mild of the 8
  • 50% of the total affected
  • Type 2 is the most severe
  • People who have Osteogenesis Imperfecta usually die from heart
  • There is no prevention due to its diagnosis at birth and is a genetic disorder
  • Respiratory failure in the most common cause of death followed by accidental trauma
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Treatment

  • Cannot be cured
  • Medical supplements like steroids to help speed up muscle development \
  • treatments aimed at increasing bone mass and strength
  • Surgery is reserved for functional improvement
  • Despite fragile bones, restricted physical activity, and short stature most children and adults with OI lead happy successful lives