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Osteogenesis Imperfecta

Also called: Brittle bone disease, OI

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Symptoms
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Treatments and Therapies

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Summary

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

Start Here

Fast Facts on Osteogenesis Imperfecta (Osteogenesis Imperfecta Foundation) - PDF
Osteogenesis Imperfecta (National Institute of Arthritis and Musculoskeletal and Skin Diseases) Also in Spanish

Symptoms

What Are the Symptoms of Osteogenesis Imperfecta (OI)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Diagnosis and Tests

How Do Health Care Providers Diagnose Osteogenesis Imperfecta (OI)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Treatments and Therapies

Rodding Surgery (Osteogenesis Imperfecta Foundation) - PDF
Surgery Considerations for Adults and Children (Osteogenesis Imperfecta Foundation) - PDF
What Are the Treatments for Osteogenesis Imperfecta (OI)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Living With

Nutrition and OI (Osteogenesis Imperfecta Foundation) - PDF
OI Issues: Dental Care for Persons with OI (Osteogenesis Imperfecta Foundation) - PDF
Preventing Vertebral Compression Fractures (Osteogenesis Imperfecta Foundation) - PDF
Respiratory Issues in OI (Osteogenesis Imperfecta Foundation) - PDF
Social and Emotional Issues of Living with OI (Osteogenesis Imperfecta Foundation) - PDF
Treating Vertebral Compression Fractures (Osteogenesis Imperfecta Foundation) - PDF

Related Issues

Hypophosphatasia (Osteogenesis Imperfecta Foundation) - PDF

Specifics

OI Types and Genetics (Osteogenesis Imperfecta Foundation)

Genetics

Learning about Osteogenesis Imperfecta (National Human Genome Research Institute)
Osteogenesis imperfecta: MedlinePlus Genetics (National Library of Medicine)

Clinical Trials

ClinicalTrials.gov: Osteogenesis Imperfecta (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Find an Expert

National Institute of Arthritis and Musculoskeletal and Skin Diseases Also in Spanish

Children

Broken Bones (Fractures) (For Parents) (Nemours Foundation) Also in Spanish

Patient Handouts

Osteogenesis imperfecta (Medical Encyclopedia) Also in Spanish

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MEDICAL ENCYCLOPEDIA

Osteogenesis imperfecta

National Institutes of Health

The primary NIH organization for research on Osteogenesis Imperfecta is the National Institute of Arthritis and Musculoskeletal and Skin Diseases

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