Van der Woude syndrome is a congenital disease - present from the moment of birth - of genetic and hereditary origin according to an autosomal dominant pattern. It is rare, there is approximately one case for every 60,000 children born. It is caused by a mutation located on chromosome 1q32-q41 that affects the IRF6 gene, which encodes the regulatory factor of interferon 6, have been detected numerous mutations in the gene that cause the disease.
The main symptoms consist of 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 pits 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.
The treatment is based on surgery mainly to correct the cleft palate when it exists, the hujols in the lower lip are usually only aesthetic importance, but can also be used to improve the facial appearance.
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