Pronounced: os-tee-oh-GEN-a-sis im-per-FEK-taEn Español (Spanish Version)
Osteogenesis imperfecta (OI) is a genetic problem that causes bones to break easily, often for little or no obvious reason. As many as 50,000 Americans currently have OI, and there are at least four forms of the disease. If you suspect that you have this condition, contact your doctor immediately. The sooner OI is detected and treated, the more favorable the outcome.
The Bones of the Body
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OI is a genetic disorder that is present at birth. It is caused by an abnormality in collagen.
A risk factor is something that increases your chance of getting a disease or condition. If you have the following risk factor for OI, tell your doctor:
- A family history of OI
In the four most common types of OI, symptoms may include:
- Bone fractures
- Bone deformity
- Short height
- Loose joints and muscle weakness
- Sclera (whites of the eyes) may have a blue, purple, or gray tint
- Triangular face
- Tendency toward spinal curvature
- Brittle teeth
- Hearing loss
- Breathing problems
Your doctor will ask about your symptoms and medical history, and perform a physical examination. He or she will probably refer you to a doctor specializing in bone care (an orthopedist) for much of your care. If you have OI, your doctor may diagnose it based on your appearance alone. Tests will likely include:
- Collagen biochemical tests
- A genetic (DNA) test that may require a skin biopsy
When osteogenesis imperfecta may affect a developing fetus, a level II ultrasound can reveal the diagnosis by about 16 weeks, in severe cases. Chorionic villus sampling (CVS) can also be used for prenatal diagnosis.
There is presently no cure for OI, so treatment is directed toward:
- Preventing health problems
- Improving independence and mobility
- Developing bone and muscle strength
Also, a surgical procedure called “rodding” is often considered for people with OI. This surgery involves inserting metal rods through the length of the long bones to strengthen them and prevent and/or correct deformities.
OI is caused by a genetic defect. Overall, any person with OI has a 50% chance of passing the disease to his or her children. Through genetic counseling, OI can be prevented from being passed from one generation to another.
Problems related to OI can be reduced or prevented by a healthy lifestyle with exercise and good nutrition. Avoid smoking and excessive alcohol consumption, which may weaken bone and increase fracture risk.
NIH Osteoporosis and Related Bone Diseases—National Resource Center
Osteogenesis Imperfecta Foundation
Canadian Orthopaedic Foundation
Canadian Osteogenesis Imperfecta Foundation
28 Thornhill Cres., Chatham, Ontario N7L 4M3, Canada
Phone 51(9-4) 36-0025 Fax: 51(9-3) 51-4043
The Hospital for Sick Children
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Last reviewed January 2008 by Kari L. Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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