Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. OI type I is nondeforming with normal height or mild short stature, blue sclera, and no dentinogenesis imperfecta (DI; see this term). The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type I is unknown. OI type I is caused by mutations in the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively). Transmission is autosomal dominant.
Last update: March 2010