What Is Osteogenesis Imperfecta?

By becky
Reviewed: Dr. Mera
Article Sources Article Sources
Medical Expert Medical Expert

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.

Osteogenesis Imperfecta

Home | Privacy Policy | Editorial | Unsubscribe | | About Us

This site offers information designed for entertainment & educational purposes only. With any health related topic discussed on this site you should not rely on any information on this site as a substitute for professional medical diagnosis, treatment, advice, or as a substitute for, professional counseling care, advice, treatment, or diagnosis. If you have any questions or concerns about your health, you should always consult with a physician or other health-care professional.