Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic (inherited) disorder characterized by bones that break easily without a specific cause. An estimated 20,000 to 50,000 people in the U.S. have this disease. OI can affect males and females of all races.
The cause of OI is believed to be due to a genetic defect that causes imperfectly-formed, or an inadequate amount of, bone collagen--a protein found in the connective tissue.
Previously, there were considered to be four types of OI. Research has now shown that there are eight specific types of the disease. Types 2, 3, 7, and 8 are the most severe types. Type 1 OI is the mildest. And types 4, 5, and 6 are moderate in severity.
Symptoms of OI include:
The symptoms of osteogenesis imperfecta may resemble other medical conditions or problems. Always consult your doctor for a diagnosis.
In addition to a complete medical history and physical examination, diagnostic procedures for osteogenesis imperfecta may include a skin biopsy to evaluate the amount and structure of collagen. However, this test is complicated and not many qualified facilities are available to perform the procedure. It is not unusual for results of the biopsy to take up to six months.
Additional diagnostic tests may include:
Specific treatment for osteogenesis imperfecta will be determined by your doctor based on:
To date, there is no known treatment, medicine, or surgery that will cure OI. The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible. Treatments for preventing or correcting symptoms may include:
Management of the disease includes focusing on preventing or minimizing deformities, and maximizing the individual's functional ability at home and in the community. Management of OI is either nonsurgical or surgical. Nonsurgical interventions may include one or more of the following:
Surgical interventions may be considered to manage the following conditions:
Surgery may also be considered to maintain the ability to sit or stand.
OI is a progressive condition that needs lifelong management to prevent deformity and complications. The interdisciplinary health care team helps the family to improve the functional outcomes and to provide support. The Osteogenesis Imperfecta Foundation (http://www.oif.org) can also be an important resource.
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