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Disease Report - Van der Woude Syndrome


            The human body is an incredibly complex organism that is susceptible to many different disease. Some of these diseases only effect 1 in 100,000 or 200,000 people and becomes incredibly difficult to either treat or cure. Some of these diseases have not been adopted by the pharmaceutical industry because there is very little financial incentive in order to cure these diseases, these diseases are called orphan diseases. An orphan disease could be a rare disease that effects fewer than 200,000 people. Other orphan diseases are common diseases that have been ignored in developed countries because modern medicine has effectively eradicated the disease. New rare diseases are discovered every year due to variations or defects in genes. Other orphan diseases can come from environmental or toxic conditions. The process for diagnosing orphan diseases are still poor. Patients who have a rare disease will often see a physician about 7 times before even receiving a diagnosis. .
             Van der Woude syndrome is an orphan disease that affects the development of the human face. Often people who are born with this syndrome often suffer from a cleft lip, a cleft palate or either. People with Van der Woude syndrome often suffer from speech problems due to the cleft palate and lip. The orphan disease syndrome is estimated to effect 1 in 35,000 to 1 in 100,000 people based on data from Europe and Asia. Van der Woude syndrome in children will affect about one of 40,000 to 100,000 infants. This syndrome is believed to be the number one cause of cleft palate and lip. The syndrome is caused by a single gene variation in the human body. The gene that is mutated which causes the Van der Woude syndrome is called interferon regulatory factor 6, IRF6. This disease is an autosomal dominant condition, a condition that is autosomal dominant only needs one parent to have the abnormal gene to for the disease to be passed down. The Van der Woude syndrome can be treated and survivable with the availability of adequate health care in the area.


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