Osteogenesis Imperfecta

(OI; Brittle Bone Disease)

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:

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