Abstract
Van der Woude syndrome (VWS) is a rare autosomal dominant condition with high penetrance and variable expression. Clinical manifestation of this autosomal dominant clefting syndrome includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. These congenital lip pits appear as a malformation in the vermilion border of the lip, with or without excretion. Discomfort caused by spontaneous or induced drainage of saliva/mucus when pressure is applied or during a meal as well as poor aesthetic match is one of the main complaints of patients with congenital lip fistula. The pits are treated by surgical resection. Dentists should be aware of the congenital lip pits as in Van der Woude syndrome because they have been reported to be associated with a variety of malformations or other congenital disorders. Here, the authors report a rare case of Van der Woude syndrome with short review of the literature.
Highlights
Van der Woude syndrome (VWS) referred to in the literature as autosomal dominant inherited clefting syndrome is a rare congenital syndrome first described by Demarquay in 1845
In VWS, congenital lip pits occur in concurrence with cleft lip and/or cleft palate and represent the most common clinical problem occurring in 80% of the patients [1]
One of the rare features associated with VWS is ankyloglossia which is reported by the authors in the present case
Summary
VWS referred to in the literature as autosomal dominant inherited clefting syndrome is a rare congenital syndrome first described by Demarquay in 1845. VWS clinically presents with congenital lip pits. These lip pits occur on paramedian portion of the vermillion border of the lip. In VWS, congenital lip pits occur in concurrence with cleft lip and/or cleft palate and represent the most common clinical problem occurring in 80% of the patients [1]. The other associated features of Van der Woude syndrome which may or may not be present are hypodontia, hypoplasia, ankyloglossia, high arched palate, limb anomalies, congenital heart defects, and so forth [2, 3]. Most cases have been associated with deletion of chromosome 1q32–q41, but an extra chromosomal locus at 1p34 has been identified [2]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
