Van Der Woude

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Incredibly all it takes is one malformation in a gene for a simple mutation to occur. A human has 46 chromosomes, 23 from the mother, and 23 from the father. For Van der Woude syndrome to occur there only needs to be a change in the first gene, and only one parent needs to carry the mutation. As an inherited syndrome 95% of cases show signs, and 5% do not the only way to know for sure is to have genetic testing done. Van der Woude syndrome is the most common syndrome associated with cleft lip and cleft palate, affecting about 2% of cleft lip and cleft palate cases. The severity of van der Woude can range from absent teeth and minor lip pits to severe cleft lip and palate. “Lip pits are often associated with accessory salivary glands that empty into the pits, which occasionally leads to embarrassing visible discharge” (Conners, G. 2009). In 65% of cases the lower lip pits are the only manifestation of the syndrome, and occur in 88% of van der Woude syndrome cases. Absent teeth is seen in 10-81% of cases and the absent teeth are usually the premolars. “A related syndrome, called Popliteal Pterygium syndrome, is caused by mutations within the same gene as van der Woude syndrome” (2011). Popliteal Pterygium syndrome is characterized by webbing in the skin, joining or webbing of any of the fingers or toes, genital anomalies and a characteristic fold of the skin overlying the nail, in addition to the typical features of van der Woude syndrome. Complications from van der Woude syndrome are usually caused by the cleft lip and palate. These complications tend to be difficulty feeding, voice disorders, frequent middle ear infections, and hearing loss. Because the cleft palate can interfere with feeding the baby will need to be fed with a bottle using a special nipple. Audio logical tests will need to be conducted to find out if ventilating tubes will need to be

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