All About OI

Osteogenesis Imperfecta

Osteogenisis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized types of the disorder, representing extreme variation in severity from one individual to another. For example, a person may have just a few or a as many as several hundred fractures in a lifetime.

It is estimated that there are about 20,000 to 50,000 people with OI in the United States.

OI is caused by a genetic defect that affects the body's production of collagen. Collagen is the major protein of the body's connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal, or a poorer quality of collagen than normal--leading to weak bones that fracture easily.

The characteristics features of OI vary greatly from person to person--even among people with the same type of OI, and not all characteristics are evident in each case.

For a more inclusive website on OI

Avery and Pamidronate

Avery and Rodding

Inheritance Factors
Most cases of OI are caused by a dominant genetic defect. Some children with OI inherit the disorder from a parent. Other children are born with OI even though there is no family history of the disorder. In these children, the genetic defect occurred as a spontaneous mutation.

Because the defect, whether inherited or due to a spontaneous mutation, is usually dominant, a person with OI has a 50 percent chance of passing on the disorder to each of his or her children. Genetic counselors can help people with OI and their family members further understand OI genetics and the possibility of recurrence, and assist in prenatal diagnosis for those who wish to exercise that option.

This site made with love by my mommy for always--------Mary Peterson-Suri MD