Osteogenesis Imperfecta
Educational information. Individual clinical review of this presentation by Dr. Ehsan is not yet documented. It does not replace personal medical evaluation.
Source: MedlinePlus, National Library of Medicine. Read the original source
MedlinePlus data edition September 26, 2026. Imported September 27, 2026. These dates do not indicate a new clinical review of the article.
Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture (break) easily. Sometimes the fractures happen for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong.
OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime.
There is no specific test for OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery.
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Symptoms, tests and care options
Further reading selected by MedlinePlus. Links open the original organizations’ websites.
- How Do Health Care Providers Diagnose Osteogenesis Imperfecta (OI)? · Eunice Kennedy Shriver National Institute of Child Health and Human Development
- Rodding Surgery · Osteogenesis Imperfecta Foundation
- Surgery Considerations for Adults and Children · Osteogenesis Imperfecta Foundation
- What Are the Symptoms of Osteogenesis Imperfecta (OI)? · Eunice Kennedy Shriver National Institute of Child Health and Human Development
- What Are the Treatments for Osteogenesis Imperfecta (OI)? · Eunice Kennedy Shriver National Institute of Child Health and Human Development
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