(OI; Brittle Bone Disease)
Pronounced: os-tee-oh-GEN-a-sis im-per-FEK-ta
by Nathalie Smith, MSN, RN
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.
OI is caused by a problem in:
Risk Factors TOP
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.... 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:
...(Click grey area to select URL)
Accessed June 16, 2016.
Last reviewed June 2016 by Michael Woods, MD
Last Updated: 6/22/2015
EBSCO Information Services is fully accredited by URAC. URAC is an independent, nonprofit health care accrediting organization dedicated to promoting health care quality through accreditation, certification and commendation.
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
To send comments or feedback to our Editorial Team regarding the content please email us at firstname.lastname@example.org. Our Health Library Support team will respond to your email request within 2 business days.