Van der Wounde syndrome

Van der Woude syndrome affects facial development. Many individuals with this disorder are born with a cleft lip or palate. These individuals usually have “pits” near the lower lip, which are moist due to the presence of saliva. There may also be tissue buildup along the lower lip. In some cases, people with Van der Woude syndrome have missing teeth. Growth and intelligence are usually normal. This condition is caused by mutations in the IRF6 gene and is inherited in an autosomal dominant manner.

Van der Woude syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected individual has one parent with the syndrome. Occasionally, a person with a copy of the altered gene may show no signs or symptoms of the disorder.

Diagnosis:
Van der Woude syndrome should be considered in any child born with a cleft lip or palate. Genetic testing can definitively confirm the diagnosis. It is also recommended that the parents undergo genetic testing to determine carrier status.

• častý rázštep podnebia (prítomné u 30% až 79% prípadov)
• zvýraznená „jamka“ na spodnej pere (prítomné u 30% až 79% prípadov)
• abnormalita slinných žliaz (príležitostne - prítomné u 5% - 29% prípadov)
• rázštep hornej pery (príležitostne - prítomné u 5% - 29% prípadov)
• hypodoncia – znížený počet zubov(príležitostne - prítomné u 5% - 29% prípadov)
• autozomálne dominantné dedičstvo
• zdvojený čapík v hrdle(uvula bifida)