What Is Osteogenesis Imperfecta?
A genetic disorder that primarily affects the body's ability to produce collagen found in bones and other tissues. As a result, bones are brittle and break easily.
Other possible symptoms of OI, include:
- Curved bones
- Muscle weakness
- Joint laxity
- Fragile skin
- Blue sclera (the white part of the eye)
- Brittle teeth
- Breathing problems
- Shortness of stature
- Hearing loss (especially in adulthood)
The symptoms and severity of OI vary greatly from:
- Mild cases that may go undetected
- Moderate cases with multiple symptoms and more fragile bones
- Acute cases where life expectancy may be decreased, largely as a result of respiratory failure
- OI occurs in males, females and all ethnicities.
- Although it can be inherited, OI frequently appears in families with no previous history of the disorder. (This is due to gene mutation rather than any action taken by either parent before or during pregnancy.)
- The vast majority of cases of osteogenesis imperfecta are caused by mutations in the COL1A1 or COL1A2 genes.