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 8 types of OI. Some are mild with no obvious signs, while others are more severe.
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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 4 most common types of OI, symptoms may include:
You will be asked 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 bones may need to be examined. This can be done with:
Genetic testing may be done. 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:
OI is caused by a genetic defect. There is no known way to prevent it.
Genetic counseling may be useful if you are planning to have 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.
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Osteogenesis Imperfecta Foundation
Canadian Orthopaedic Foundation
The Hospital for Sick Children
Osteogenesis imperfecta. EBSCO DynaMed Plus website. Available at:http://www.dynamed.com/topics/dmp~AN~T116818/Osteogenesis-imperfecta. Updated April 19, 2016. Accessed June 16, 2016.
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 June 16, 2016.
Last reviewed May 2018 by Michael Woods, MD