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Osteogenesis Imperfecta (OI): Overview

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Osteogenesis imperfecta (pronounced os-tee-uh-JEN-uh-sis im-per-FEK-tuh) means “imperfect bone formation” and is commonly known as “brittle bone disease” or OI. It is a rare genetic disorder that affects the protein collagen (pronounced KOL-uh-juhn), which is found in bone, teeth, skin, tendons, and parts of the eye. People with osteogenesis imperfecta have bones that can break easily, sometimes with no obvious cause. NICHD research has been instrumental in discovering the genes that cause some types of OI. The Institute continues to conduct and support research on many aspects of OI, including genetics and treatment. 

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Common Name

  • Brittle bone disease

Medical or Scientific Name

  • Osteogenesis imperfecta, types I to XI
Last Updated Date: 03/06/2014
Last Reviewed Date: 12/16/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology