Pronounced: os-tee-oh-GEN-a-sis im-per-FEK-ta
Osteogenesis imperfecta (OI) is a genetic problem of 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. Treatment plans may also be designed according to the type of OI.
OI is caused by a problem in:
A family history of OI may increase your risk of certain types. 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. To examine the bones your doctor may order:
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. You and your medical team will create a plan to help you manage 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:
OI is caused by a genetic defect. There is no known way to prevent it.
Genetic counseling may be useful if you are planning on having a child and you have OI or a family history of OI. The counselor can let you know the risk your child may have of developing OI.
NIH Osteoporosis and Related Bone Diseases—National Resource Center
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 March 29, 2012. Accessed December 27, 2012.
Osteogenesis imperfecta. Osteogenesis Imperfecta Foundation website. Available at: http://www.oif.org/site/PageServer?pagename=AOI_Types . Accessed December 27, 2012.
Chevrel G, Meunier PJ. Osteogenesis imperfecta: lifelong management is imperative and feasible. Joint Bone Spine . 2001;68:125-129.
Kleigman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders; 2007.
Last reviewed November 2012 by Michael Woods, MD
Last Updated: 11/26/2012