Osteogenesis Imperfecta Resources

General Information

• American Academy of Orthopaedic Surgeons (AAOS) OrthoInfo: Osteogenesis Imperfecta
• MedlinePlus, National Library of Medicine: Osteogenesis Imperfecta
• National Human Genome Research Institute (NHGRI): Learning About Osteogenesis Imperfecta
• National Institute of Arthritis and Musculoskeletal and Skin Diseases: What Is Osteogenesis Imperfecta?

Services, Resources, and Support

• NICHD OI Program
  Information about the various types of OI, as well as basic research and ongoing clinical trials conducted by the NICHD, is available online. The NICHD conducts free testing for eligible individuals. Read more about the NICHD OI Program.
• Osteogenesis Imperfecta Foundation
  A voluntary national health organization dedicated to helping people cope with the problems associated with OI. The Foundation’s mission is to improve the quality of life for people affected by OI through research to find treatments and a cure, education, awareness, and mutual support.
• Brittle Bone Society
  Founded in Dundee, Scotland, in 1968, the Brittle Bone Society is a U.K. organization providing support to people affected by OI.

Please note: Links to organizations and information included on this page do not indicate endorsement from NICHD, NIH, or HHS.

• Osteogenesis Imperfecta Foundation
  The foundation offers materials for medical providers, including general information and fact sheets.
• National Institute of Musculoskeletal and Skin Diseases (NIAMS)
  NIAMS maintains the NIH Osteoporosis and Related Bone Diseases National Resource Center, which provides information about osteogenesis imperfecta for healthcare practitioners. Information is available specifically for OI.
• International Skeletal Dysplasia Registry
  Established in 1970, the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center (Los Angeles) is a referral center for diagnostic opinions. The Registry also collects information for research into the diagnosis, management, and etiology of the skeletal dysplasias. Partially supported by a grant from the NIH, it is the largest such registry in the world.
• Osteogenesis Imperfecta Mutation Consortium
  NICHD's Bone and Extracellular Matrix Branch leads an international consortium of connective tissue laboratories that compile and analyze information on mutations in type I collagen. The first analysis of the consortium's database, published in 2007, listed more than 830 mutations. The database now contains more than 1,570 mutations from nine international laboratories.¹ Read a published abstract of research conducted by the consortium.

Please note: Links to organizations and information included on this page do not indicate endorsement from NICHD, NIH, or HHS.