Osteogenesis imperfecta is a genetic disorder that impacts how the body produces collagen, a protein that helps strengthen bones. OI can be a mild bone disorder, resulting in a few fractures in a child’s lifetime. In more severe cases, the disease can cause hundreds of fractures and even impact other organ systems.
At Children's Healthcare of Atlanta, we’re dedicated to treating children with OI. Our team will teach our children living with OI, as well as parents, what they should expect and how to prepare.
Type I collagen disorder
OI affects how a child’s body produces Type I collagen, the protein that forms bone structure. It is caused by either a lack of collagen or the collagen is abnormally formed. Since Type I collagen is also located in teeth, the whites of the eyes, ears, skin, ligaments, heart valves and blood vessels, the disease can also impact other organ systems.
OI is an inherited disorder. Typically, it’s passed down through families, but not always. Therefore, it is possible for your child to have OI without other family members being affected. Approximately 1 out of every 20,000 live births result in Osteogenesis Imperfecta.
There are more than 300 known genetic mutations associated with the disorder and some forms are more severe than others.