Osteogenesis imperfecta

Alternative Names

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.

Symptoms

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.

Treatment

There is not yet a cure for this disease. However, specific therapies can reduce the pain and complications associated with OI.

Expectations (prognosis)

How well a person does depends on the type of OI they have.

Review

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

Pectus excavatum

ADAM Medical Encyclopedia

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