What Is Osteogenesis Imperfecta?

By becky

Reviewed: Dr. Mera

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Osteogenesis Imperfecta (OI), commonly known as brittle bone disease, is a rare hereditary condition. It is characterized by fragile bones, structural deformities, and other life-threatening abnormalities. Although present at birth, OI is not always detected until much later.

Found in both males and females, OI shows up across all ethnic groups. The severity of this incurable genetic disease varies greatly, even between family members who suffer from this condition. Understanding some of the complexities of OI can help patients strive for the best quality of life possible.

1. Genetic Cause

Congenital gene mutations coming from one or both parents are usually responsible for OI. The defect is in the gene responsible for collagen synthesis, a protein used in bone creation. The inherited disorder results in soft bones that break easily and are often deformed. Very short bones and other related structural abnormalities may also occur.

If one parent has the gene defect, a child born to that parent has a 50% chance of being born with OI. It is even possible for the genetic defect to occur as a new mutation when neither parent carries the abnormality, but this is very rare.