Osteogenesis Imperfecta
(OI; Brittle Bone Disease)
Pronounced: os-tee-oh-GEN-a-sis im-per-FEK-ta
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The Bones of the Body
Copyright © Nucleus Medical Media, Inc.
Definition
Osteogenesis imperfecta (OI) is a genetic problem of 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. Treatment plans may also be designed according to the type of OI.
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Causes
OI is caused by a problem in:
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Gene that controls 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.
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Gene that controls proteins in cartilage
- Less common cause of OI.
- An inherited genetic change from parents. There is often a family history.
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Risk Factors
A family history of OI may increase your risk of certain types. There are no known risk factors for most types of OI.
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Symptoms
In the four most common types of OI, symptoms may include:
- Bone fractures
- Hearing loss
- Sclera (whites of the eyes) may have a blue, purple, or gray tint
- Bone deformity
- Short height
- Loose joints and muscle weakness
- Triangular face
- Tendency toward spinal curvature
- Brittle teeth
- Breathing problems
- Bruising easily
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