Osteogenesis Imperfecta

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

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Children

• Broken Bones (For Parents) Nemours Foundation

Clinical Trials

• ClinicalTrials.gov: Osteogenesis Imperfecta National Institutes of Health

Start Here

• Fast Facts on Osteogenesis Imperfecta Osteogenesis Imperfecta Foundation
• Osteogenesis Imperfecta National Institute of Arthritis and Musculoskeletal and Skin Diseases

Diagnosis and Tests

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

Related Issues

• Hypophosphatasia Osteogenesis Imperfecta Foundation
• Myths about OI (Osteogenesis Imperfecta) Osteogenesis Imperfecta Foundation

Genetics

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

Find an Expert

• National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institute of Arthritis and Musculoskeletal and Skin Diseases
• National Institutes of Health Osteoporosis and Related Bone Diseases National Resource Center National Institute of Arthritis and Musculoskeletal and Skin Diseases

Living With

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

Patient Handouts

• Osteogenesis imperfecta Medical Encyclopedia

Journal Articles

• Osteogenesis Imperfecta

Treatments and Therapies

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

Specifics

• Types of OI Osteogenesis Imperfecta Foundation

Symptoms

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