Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four distinct forms of the disorder, representing extreme variation in severity from one individual to another. For example, a person may have as few as ten or as many as several hundred fractures in a lifetime.
While the number of persons affected with OI in the United States is unknown, the best estimate suggests a minimum of 20,000 and possibly as many as 50,000.
Most forms of OI are caused by imperfectly formed bone collagen, the result of a genetic defect. 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 or a poorer quality of collagen.
Collagen testing, which is done through a skin biopsy, is used to determine the amount of collagen present and its structure. While these studies identify the vast majority of people who have OI, approximately 15% of individuals with obvious features of OI do not demonstrate a collagen abnormality sufficient enough to be detected by the testing. Because of the complexity of the test, as well as the limited number of laboratories that are qualified to do the testing, it may take 3 to 6 months before test results are known.
The characteristic features of OI vary greatly from person to person and not all characteristics are evident in each case; however, the general features of OI, which vary in characteristics as well as severity, are:
Type I OI:
Type II OI:
Type III OI:
Type IV OI:
OI can be dominantly or recessively inherited and can also occur as a mutation. Therefore, individuals with OI and parents of children with OI are strongly encouraged to seek genetic counseling to determine the likelihood of OI recurring in their families.
At present there is no cure for OI. Treatment is directed toward preventing or correcting the symptoms. Care of fractures, extensive surgical and dental procedures, and physical therapy are often recommended for persons with OI. Wheelchairs, braces, and other custom-made equipment are often necessary. Individuals are encouraged to seek out medical centers where all aspects of OI, including biochemical, orthopedic, dental, and hearing problems, can be treated.
An orthopedic procedure called "rodding" is frequently considered for individuals with OI. This treatment involves inserting metal rods through the length of the long bones to strengthen them and prevent deformities.
The prognosis for an individual with OI varies greatly depending on the number of symptoms as well as the severity of the symptoms. Despite numerous fractures, restricted activity, and short stature, many adults and children with OI lead productive and happy lives.
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