• Osteogenesis Imperfecta

    (OI; Brittle Bone Disease)


    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.
    The Bones of the Body
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    OI is caused by a problem in:
      The gene that controls the making of collagen—an important element in bones and connective tissues:
      • Most common cause of OI
      • Most often caused by a random change in the gene; not often associated with a family history
      The gene that controls proteins in cartilage:
      • Less common cause of OI
      • An inherited genetic change from parents; there is often a family history

    Risk Factors

    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:
    • Bone pain
    • Hearing loss
    • Whites of the eyes may have a blue, purple, or gray tint
    • Bone deformity
    • Short height
    • Loose joints and muscle weakness
    • Triangular face
    • Brittle teeth
    • Breathing problems
    • Bruising easily


    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:
    • Preventing health problems
    • Improving independence and mobility
    • Developing bone and muscle strength
    Some supportive treatment options include:
    • Medication called bisphosphonates—to increase bone mineral density
    • Physical therapy—for range of motion and muscular strength exercises
    • Surgical implant of rods into long bones—to provide strength and prevent or correct deformities
    • Monitoring for fractures or scoliosis
    • Assistive devices like braces, canes, or wheelchairs—may be needed with certain types of OI
    • Dental procedures
    Problems related to OI, such as fractures, can be reduced or prevented by a healthy lifestyle. This should include:
    • Exercise—swimming is often an ideal and safe activity
    • Good nutrition
    • Not smoking
    • Avoiding excessive amounts of alcohol


    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 http://www.niams.nih.gov

    Osteogenesis Imperfecta Foundation http://www.oif.org


    Canadian Orthopaedic Foundation http://www.canorth.org

    The Hospital for Sick Children http://www.sickkids.ca


    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%5FTypes. Accessed June 16, 2016.

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