What Is Osteogenesis Imperfecta?
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic condition characterized by bones that break easily, often for little or no apparent reason. Osteogenesis imperfecta can literally be translated as "imperfectly formed bones."
Understanding Collagen and Osteogenesis Imperfecta
Collagen is the major protein of the body's connective tissue and is the framework upon which bone and tissue are built. It can be compared to the framework around which a building is constructed. If the collagen framework is defective, the bones fracture easily, the skin is loose and transparent, and the muscles lack tone. People with osteogenesis imperfecta either have less collagen than normal, or a poorer quality of collagen.
How Common Is Osteogenesis Imperfecta?
While the number of people affected with osteogenesis imperfecta in the United States is unknown, the best estimate suggests a minimum of 20,000 and possibly as many as 50,000. Osteogenesis imperfecta also affects people in other countries throughout the world.
Cause of Osteogenesis Imperfecta
The
cause of osteogenesis imperfecta, in most cases, is by a dominant genetic defect (known as autosomal dominant) in the genes responsible for making collagen. Some
children with osteogenesis imperfecta inherit the disorder from a parent. Other children are born with osteogenesis imperfecta even though there is no family history of the disorder. In these children, the genetic defect occurred as a spontaneous mutation.
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