Osteogenesis imperfecta (OI) is a genetic problem that affects the bones. The most common effect is weakened bones that break easily. There are at least eight types of OI. Some are mild with no obvious signs, while others are more severe.
OI is caused by a problem in:
A family history of OI may increase your risk of certain types of the disease. There are no known risk factors for most types of OI.
In the four most common types of OI, symptoms may include:
Your doctor will ask about your symptoms and medical history. A physical exam will be done. OI may be diagnosed based on your history of fractures or appearance alone. Your doctor may order tests to confirm the diagnosis.
Your bones may need to be examined. This can be done with:
Your doctor may also want to do genetic testing. This can help determine the type of OI. Genetic testing can be done through a blood, saliva, or skin biopsy.
If you are pregnant and have a family history of OI your doctor may do:
There is presently no cure for OI. In general, treatment is directed toward:
Some supportive treatment options include:
Problems related to OI, such as fractures, can be reduced or prevented by a healthy lifestyle. This should include:
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Osteogenesis Imperfecta Foundation
Canadian Orthopaedic Foundation
The Hospital for Sick Children
Osteogenesis imperfecta. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us. Updated May 10, 2013. Accessed August 6, 2013.
Chevrel G, Meunier PJ. Osteogenesis imperfecta: lifelong management is imperative and feasible. Joint Bone Spine. 2001;68:125-129.
Types of OI. Osteogenesis Imperfecta Foundation website. Available at: http://www.oif.org/site/PageServer?pagename=AOI_Types. Accessed August 6, 2013.
Last reviewed August 2013 by Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.