Van der Woude syndrome is a congenital disease - present since birth - of genetic and hereditary origin according to an autosomal dominant pattern. It is rare, approximately one case is produced per 60,000 children born. It is caused by a mutation located on chromosome 1q32-q41 that affects the IRF6 gene, which encodes the regulating factor of interferon 6, have been detected numerous mutations in the gene that cause the disease.
The main symptoms are a series of malformations that affect the skull and face, including fissures in the upper lip and palate and the presence of small depressions or fositas in the lower lip. There may also be a lack of dental development (hypodontia), malformations of the heart and extremities, such as syndactyly. In general the symptoms have great variability among the different affected individuals.
Treatment is based on surgery mainly to correct the cleft in the palate when it exists, the bottom lip shoots are usually only of esthetic importance, but can also be intervened to improve the facial appearance.
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