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Definition

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.

The Bones of the Body
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Causes

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.
  • 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.

Symptoms

In the four 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

Diagnosis

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:

Treatment

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

Prevention

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.

Revision Information

  • 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 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%5FTypes. Accessed August 6, 2013.