Osteogenesis imperfecta

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Pectus excavatum

Osteogenesis imperfecta is a condition causing extremely fragile bones.

Brittle bone disease

Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is caused by a genetic defect that affects type 1 collagen, an important building block of bone. This defect can occur in several ways.

• The defect may be inherited from a mother or father with OI.
• It may be caused by a mutation in the egg or sperm that created the child. In this case, neither parent has the gene for OI or the disease itself.
• It may be inherited from a parent with eggs or sperm that carry the gene for OI, even if that parent does not have the disease.

Review Date: 09/07/2006
Reviewed By: Benjamin W. Van Voorhees, M.D., MPH, Assistant Professor of Medicine and Pediatrics, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.