Brittle bone disease
Definition of Osteogenesis imperfecta
Osteogenesis imperfecta is a condition causing extremely fragile bones.
Causes, incidence, and risk factors
Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect.
All people with OI have weak bones, which makes them susceptible to fractures. Persons with OI are usually below average height ( ). However, the severity of the disease varies greatly.
Signs and tests
OI is usually suspected in children whose bones break with very little force. A physical examination may show that the whites of their eyes have a blue tint.
There is not yet a cure for this disease. However, specific therapies can reduce the pain and complications associated with OI.
How well a person does depends on the type of OI they have.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 8/7/2009