Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. It is caused by a defect that affects the body's production of collagen, a major protein of the body's connective tissue. There are at least four distinct forms of the disorder, representing extreme variation in severity from as few as ten or as many as several hundred fractures in a lifetime.
At present there is no cure for OI. Treatment is directed toward preventing or correcting the symptoms. Care of fractures, extensive surgical and dental procedures, and physical therapy are often recommended for persons with OI. Wheelchairs, braces, and other custom-made equipment are often necessary.
The prognosis for an individual with OI varies greatly depending on the number of symptoms as well as the severity of the symptoms. Despite numerous fractures, restricted activity, and short stature, many adults and children with OI lead productive and happy lives.
Parents of children with OI face many challenges. In addition to managing the medical issues, the child's pain and mobility, they must also be concerned about providing opportunities for socialization and psychological development. In addition, many parents of OI children have been mistakenly accused of child abuse. The OI Foundation has information that parents can use to help teachers and social service agencies understand the differences between child abuse and OI.
For more information:
Osteogenesis Imperfecta Foundation (OIF)
The Bones Page
Children's Brittle Bone Foundation