Osteogenesis Imperfecta Type 1

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.

Epidemiology

The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type I is unknown.

Clinical description

OI type I is nondeforming with normal height or mild short stature, blue sclera, and no dentinogenesis imperfecta (DI; see this term).

Etiology

OI type I is caused by mutations in the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively).

Genetic counseling

Transmission is autosomal dominant.