May also be called: Brittle Bone Disease; OI
Osteogenesis imperfecta (os-tee-oh-JEN-uh-sis im-pur-FEK-tuh) is an inherited genetic disorder that weakens the bones and makes them break, or fracture, easily.
Collagen is an important building block of bones. Because of a defect in the gene that produces collagen, people with OI either don't have enough collagen in their bones or have collagen that doesn't work properly. This causes their bones to be weaker and more brittle than normal bones. It can also lead to bone deformities.
The severity of osteogenesis imperfecta can vary. Some people won't know they have it until they fall and break a bone. For them, the only symptom of OI might be an occasional fracture. In rare cases, children are born with broken bones that require surgery. Some people will most likely need treatment to maintain bone strength for the rest of their lives.
There is no cure for osteogenesis imperfecta, but people with OI can minimize their risk of broken bones by avoiding activities that put them at risk of a fall or collision. Low-impact exercise to increase muscle strength and mobility and certain medications can help increase bone strength to further reduce the risk of fractures.
All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts.
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