Van Der Woude Syndrome with Ectodermal Dysplasia- Case Report

Abstract

Congenital lip pits of the lower lip are rare developmental malformation with high penetrance, variable expressivity, and autosomal dominance. The cardinal signs in Van der Woude syndrome are congenital lower lip pits, cleft lip with or without cleft palate, and isolated cleft palate. Hypodontia is a cardinal feature that is associated with this syndrome. Ectodermal Dysplasia (ED) is a rare group of inherited disorders manifested with a defect in hair, skin, teeth, and eccrine glands. In ED there are defects in the development of tissues derived from primary embryonic ectodermal derivatives. Dry skin and sparse hair are common features seen in these patients. Partial or complete absence of teeth is reported in ectodermal dysplasia. This is a case report of an 18-year-old male with combined features of Van der Woude Syndrome (VWS) and Hypohidrotic Ectodermal Dysplasia (HED). The patient was surgically managed for the cleft lip at an early age.