Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma. The disorder is also referred to as brittle bone disease.
It varies in severity from person to person, ranging from a mild type to a severe type that causes death before or shortly after birth. In addition to having fractures, people with the disorder also have teeth problems (dentinogenesis imperfecta), and hearing loss when they are adults. Muscle weakness, loose joints (joint laxity) and skeletal malformations are among other complications associated with the disorder.
As of now, there is cure for osteogenesis imperfecta. The treatment of the disorder involves supportive therapy to decrease the number of fractures and disabilities, help with independent living and maintain overall health.
The prognosis of osteogenesis imperfecta for a person varies depending on the severity of symptoms. Respiratory failure is the most frequent cause of death for people with the disorder. Despite numerous fractures, restricted activity, and small stature, most adults and children with OI lead productive and successful lives.
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