Osteogenesis Imperfecta

Osteogenesis imperfecta, also known as brittle bone disease, is a group of inherited disorders that most often result from mutations affecting type I collagen, the main structural protein of bone, leaving bones that fracture unusually easily, sometimes from minimal or no trauma. Depending on the type, affected individuals may also have a distinctive blue or gray tint to the whites of the eyes, hearing loss and short stature; severity ranges widely, from mild forms compatible with a normal lifespan to severe forms that are fatal in infancy. At least eight types are now recognized, distinguished by their genetic cause and clinical severity.