Osteogenesis Imperfecta (Brittle Bone Disease)

What Is Osteogenesis Imperfecta?

Osteogenesis imperfecta (OI) is a genetic disorder that prevents the body from building strong bones. That’s why it’s also called brittle bone disease. 

There are different types of OI, and the problems it causes vary. Some people have mild symptoms, like bones that break a little easier than normal. Others can have serious problems. Treatments can help people with osteogenesis imperfecta reach their full potential.

What Causes Osteogenesis Imperfecta?

Osteogenesis imperfecta (os-tee-oh-JEN-uh-sis im-pur-FEK-tuh) happens because of a mutation (change) in the gene that makes the protein collagen. Collagen is an important building block of bones.

Children may inherit the mutation from a parent. Sometimes, though, it is not inherited and neither parent has osteogenesis imperfecta. Instead, the change happens early in pregnancy when the baby is first forming.

People who have brittle bone disease are born with it. They either don't have enough collagen in their bones or the collagen doesn't work as it should. This makes their bones weaker and more brittle than normal bones. It also can lead to abnormally shaped bones.