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Study Notes

Brittle Bone Disease

Level:
BTEC National
Board:
Edexcel

Last updated 29 Sept 2019

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Brittle bone disease is a disorder that results in fragile bones that break easily. It usually presents itself at birth but is only known to develop in children where there is a family history of brittle bone disease. It is caused by a defect in the gene that produces type 1 collagen.

Effects of Brittle Bone Disease:

  • Minor fractures of the bones.
  • Severe fractures (where several bones are fractured).
  • Problems with the spinal cord/
  • Hearing loss.
  • In some cases, it can be life threatening.

Symptoms of brittle bone disease:

  • Multiple broken bones
  • Weak teeth
  • Loose joints
  • Curved spine
  • Bowed arms or legs
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