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 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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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
  • 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.

Symptoms

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

Diagnosis

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:

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