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Reviewed May 2009
Osteogenesis imperfecta (OI) is a disease that causes weak bones that break easily. It is known as brittle bone disease. Sometimes the bones break for no known reason. OI can also cause many other problems such as weak muscles, brittle teeth, and hearing loss. About 20,000 to 50,000 people in the United States have OI.
OI is caused by one of several genes that aren’t working properly. Genes carry our hereditary (family) information. We each have two copies of most genes: one set from each parent. Genes are what make you look like your biological family.
Each of the genes that cause OI plays a role in how the body makes collagen. Collagen is a material in bones that helps make them strong. When these genes aren’t working properly, there isn’t enough collagen, or the collagen doesn’t work properly. This leads to weak bones that break easily.
Most children inherit the gene that doesn’t work properly from one parent. Some inherit it from both parents. In some cases, neither parent passes on this gene. Instead, the gene stops working properly soon after the child is conceived.
All people with osteogenesis imperfecta have brittle bones. OI can range from mild to severe and symptoms vary from person to person. Some of the symptoms that people with OI may have are:
There are 8 main types of osteogenesis imperfecta. People with types 2, 3, 7, and 8 tend to have severe symptoms. People with types 4, 5, and 6 tend to have more moderate symptoms. People with type 1 tend to have mild symptoms. There used to be only 4 types of OI, but then scientists found that even when symptoms look similar in a group of patients, they can be caused by problems in different genes. This is why there are now 8 main types of OI instead of 4.
No single test can identify osteogenesis imperfecta. To diagnose OI, doctors look at:
Your doctor may also test your collagen (from skin) or genes (from blood). It may take a few weeks to learn the results of the tests. These tests spot OI in 9 out of 10 people who have it.
Although there is no cure for OI, symptoms can be managed. Treatments for OI may include:
One type of surgery is called “rodding.” Metal rods are put inside the long bones to:
A healthy lifestyle also helps people with OI. You can help prevent broken bones and maintain your health if you:
Proper care helps children and adults who have OI to:
No medications are approved to treat OI. But, experts are trying to learn more about:
The information in this publication was summarized in easy-to-read format from a more detailed publication. To view, download, or order the full-text version, visit http://www.niams.nih.gov/Health_Info/Bone/default.asp.
The NIH Osteoporosis and Related Bone Diseases~National Resource Center acknowledges the assistance of the Osteogenesis Imperfecta Foundation (www.oif.org) in the preparation of this publication.
For updates and for any questions about any medications you are taking, please contact the U.S. Food and Drug Administration at 1–888–INFO–FDA (1–888–463–6332, a toll–free call) or visit their Web site at www.fda.gov.
Toll Free: 888–INFO–FDA (888–463–6332)