National Health Council — Voluntary Health Agency Guide

Osteogenesis Imperfecta Foundation

The Osteogenesis Imperfecta Foundation, Inc. (OI Foundation), founded in 1970, is the only voluntary national health organization dedicated to improving the lives of those affected by osteogenesis imperfecta through information resources, awareness, mutual support, and research into better treatments and a cure. The OI Foundation is recognized around the world as the premiere source of current, accurate, and medically verified information about OI. Thanks to the work of dedicated researchers and clinicians supported by the OI Foundation, traditional treatments are being perfected, and new treatments for strengthening OI bone are being tested. Research into a cure is progressing rapidly.

About the condition(s):

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. OI is caused by a genetic defect that affects the body's production of collagen — the protein "scaffolding" of bone and other connective tissues. People with OI have a faulty gene that instructs their bodies to make either too little type 1 collagen, or a poor quality type 1 collagen. The result is bones that break easily and numerous other connective tissue symptoms. For example, coughing can break a rib, rolling over can break a leg. There are at least four recognized forms of the disorder, representing extreme variation in severity from one individual to another. OI occurs equally among males and females, and it occurs in all racial and ethnic groups.

Throughout a person with OI's lifetime, (s)he will have numerous broken bones and surgery to try to correct bone deformities and straighten the bones so (s)he can live independently. The challenge of living with OI includes dealing with casts, braces, surgery, wheelchairs, and long periods of recovery. The effects of OI go beyond fractures. People with OI may also have early hearing loss, spinal curvature, brittle teeth, and respiratory problems.