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• Start Here
• Symptoms
• Diagnosis and Tests
• 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
• What Is Osteogenesis Imperfecta? (National Institute of Arthritis and Musculoskeletal and Skin Diseases)

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

• Exercise and Activity: Key Elements in the Management of OI (National Institute of Arthritis and Musculoskeletal and Skin Diseases)
• 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
• Myths about OI (Osteogenesis Imperfecta) (Osteogenesis Imperfecta Foundation)

Specifics

• OI Issues: Type I - Understanding the Mildest Form of Osteogenesis Imperfecta (National Institute of Arthritis and Musculoskeletal and Skin Diseases)
• Types of OI (Osteogenesis Imperfecta Foundation)

Genetics

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

Statistics and Research

• Study in Mice Links Key Signaling Molecule to Underlying Cause of Osteogenesis Imperfecta (National Institute of Arthritis and Musculoskeletal and Skin Diseases)

Clinical Trials

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

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

• Article: Patients' priorities and expectations on an EU registry for rare bone...
• Article: Eat, breathe, sleep with Osteogenesis Imperfecta.
• Article: Knowledge, attitude and practices regarding health self-management among patients with osteogenesis...
• Osteogenesis Imperfecta -- see more articles

Find an Expert

• National Institute of Arthritis and Musculoskeletal and Skin Diseases Also in Spanish
• National Institutes of Health Osteoporosis and Related Bone Diseases National Resource Center (National Institute of Arthritis and Musculoskeletal and Skin Diseases)

Children

• Broken Bones (For Parents) (Nemours Foundation)

Patient Handouts

• Osteogenesis imperfecta (Medical Encyclopedia) Also in Spanish