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Osteogenesis imperfecta - Overview

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.

OI is an autosomal dominant disease. That means if you have one copy of the gene, you will have the disease. Most cases of OI are inherited from a parent, although some cases are the result of new genetic mutations.

A person with OI has a 50% chance of passing on the gene and the disease to their children.

Pectus excavatum

Reviewed last on: 8/2/2011
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.

References

Marini JC. Osteogenesis imperfecta. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 692.

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