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Van der Woude syndrome (VWS) is a condition affecting the lips, palate, and teeth. Depressions or pits typically are present on the lower lip at birth and cleft lip and/or cleft palate may also be present. Less commonly, certain teeth may not develop. VWS has previously been known as the lip pit syndrome.
Van der Woude syndrome primarily involves pits developing on the lower lip, clefting of the lip and/or palate, and the absence of certain teeth. More than 80% or more than 8 out of 10 individuals with VWS will develop pits near the center of the lower lip and about 60–70% (6 to 7 people out of 10) will have a cleft lip and/or palate at birth. About half to two-thirds of the individuals will have both lower lip pits and a cleft of the lip and/or palate. In some cases, a cleft palate is present but is not immediately noticeable; this is called a submucosal cleft palate. The least common feature in VWS, missing teeth, is seen in about 10–20% (1 to 2 people out of 10) of individuals with VWS. The teeth most commonly affected are the second incisors and the second molars.
Van der Woude syndrome is related to another condition called popliteal pterygium syndrome (PPS). Popliteal pterygium syndrome is similar to VWS in that both conditions cause lip pits and cleft lip and/or palate to develop. Popliteal pterygium syndrome differs from VWS in that popliteal pterygium webs are present at birth. Pterygium means webbed skin. Popliteal refers to the back of the legs. Popliteal pterygium means that there is webbed skin on the back of the legs, usually on the back of the knees. Individuals with PPS may also have underdevelopment of the genitals, webbing between the fingers, adhesion of the lower and upper eyelids, and fibrous bands attaching the lower and upper jaws.
Some families have features consistent with both VWS and PPS. In other words, within a family, some family members have features that are entirely consistent with VWS and other family members have features consistent with PPS. Since the gene(s) causing VWS and PPS have not been identified, it is not known why these families have features of both diseases.
Author Info: Cindy L. Hunter CGC, The Gale Group Inc., Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part I, 2002
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