Osteogenesis imperfecta, an imperfect formation of bones, is a genetic bone disorder that is present at birth. It is also known as brittle bone disease. A child born with Osteo imperfecta may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.
For most people, a change or defect in the genes that carry the instructions for making type I collagen causes OI. Type I collagen is a material in bones that helps make them strong. The defect in the genes causes the body to make collagen incorrectly or not make enough, leading to weak bones that break more easily. There is no way to prevent the disease. Type I collagen is also in other connective tissues such as tendon, ligament, lung, and skin, and these tissues can sometimes be affected.
To date, there is no known treatment, medicine, or surgery that will cure osteogenesis imperfecta.