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What is Osteogenesis Imperfecta?

  • A genetic disorder affecting the bones 
  • Occurs in 6 to 7 per 100,000  
  • There are at least eight types 
  • Caused by mutation in the COL1A1, COL1A2, CRTAP and P3H1 gene

Diagnosis of Osteogenesis Imperfecta 

  • Before birth by:
    • Ultrasound
    • Amniocentesis
    • CVS
  • After birthby: 
    • No single test for confirmation, however the following would assist - 
    • Family history
    • Medical history
    • Physical exam
    • X ray
    • Collagen and/or gene testing 
    • Observation of common physical characteristics

What are common characteristics of Osteogenesis Imperfecta?

  • Short, small body
  • Malformed bones
  • Loose joints (hyper mobility)
  • Muscle weakness
  • Triangular face
  • Barrel-shaped rib cage
  • Curved spine (kyphosis or scoliosis)
  • Brittle teeth
  • Hearing loss
  • Blue/purple or grey tint to the whites of the eyes (sclera)

*Please be aware, not all of the characteristics may be present*

Other information about Osteogenesis Imperfecta 

  • Intelligence is not affected
  • Life expectancy is not affected
  • Affects males and females equally

Genetics of Osteogenesis Imperfecta 

  • More commonly Osteogenesis Imperfecta is inherited in an autosomal dominant pattern

Dwarfism Genetics OI mutation dominant

  • Less commonly Osteogenesis Imperfecta is inherited in an autosomal recessive pattern

Dwarfism Genetics OI mutation recessive

Additional reading about Osteogenesis Imperfecta 

Other organisations supporting Osteogenesis Imperfecta

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