Fibrodysplasia ossificans progressiva (FOP), is a rare disease of the connective tissue. Children born with FOP characteristically have small big toes. The first sign that leads to the formation of FOP bones is usually before the age of 10. It is considered a genetic disease because the bone growth starts from the top down just as bones grow on fetuses, for example a child with FOP will develop bones starting on the neck, then shoulders, arms, chest and on the feet. Often, a tumor like lumps will appear suddenly overnight. The gene is normally deactivated when the child´s bones are made in the womb, but in patients with FOP this gene keeps working. Because the disease is so rare, the symptoms are often misdiagnosed as cancer. This leads doctors to order biopsies, which can actually increase the growth of these lumps. Those diagnosed with FOP should try to avoid falling or getting bruises, and avoid intramuscular injections since these can cause bone to grow. Likewise, people with FOP should never stretch their joints outside of their normal range of motion. FOP is caused by an autosomal dominant allele on chromosome 2q23-24. Most cases are caused by spontaneous mutation in the gametes. Most people with FOP cannot have children. About 2,500 cases have been reported to date, but a study has determined that it affects approximately 1 in 2 million people.
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