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
- Less commonly Osteogenesis Imperfecta is inherited in an autosomal recessive pattern
Additional reading about Osteogenesis Imperfecta
- Genetics Home Refenrence - Osteogenesis Imperfecta
- National Organisation for Rare Disorders (NORD) - Osteogenesis Imperfecta
- National Institute of Arthiritis and Musculoskeletal and Skin Disease - Osteogenesis Imperfecta
- MedlinePlus
- Kids Health
- Understanding Dwarfism
Other organisations supporting Osteogenesis Imperfecta
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