Abstract
Van der Woude syndrome (VWS) is usually underreported and frequently not diagnosed. The phenomenon that cleft lip and palate are regularly combined in the same pedigree makes it unique. A meticulous examination of a patient with lip pits may reveal a hidden form of a cleft, for example, submucous. This paper presents a case of VWS in a ten-year-old boy with characteristic orofacial features. Special emphasis has also been given on the need for appropriate genetic counseling.
Highlights
Van der Woude syndrome (VWS) is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity, occurring in about 1 of every 1,00,000–2,00,000 people [1]
Van der Woude was the first to combine lower lip pits with cleft lip (CL) and palate (CLP), introducing a new clinical entity, while she described its mode of heredity
Van der Woude syndrome is characterized by pits and sinuses of lower lip, cleft lip with or without cleft palate
Summary
Van der Woude syndrome (VWS) is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity, occurring in about 1 of every 1,00,000–2,00,000 people [1]. Van der Woude was the first to combine lower lip pits with cleft lip (CL) and palate (CLP), introducing a new clinical entity, while she described its mode of heredity. Van der Woude syndrome is characterized by pits and sinuses of lower lip, cleft lip with or without cleft palate. Sometimes lip pits may be the only manifestation of this syndrome. Other oral manifestations include congenital adhesion of the jaws, narrow high arched palate, and ankyloglossia. The following case report describes a case of VWS including pits in lower lip, cleft in upper lip and palate, and hypodontia
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