Year : 2020

Volume : Volume 11

Issue : Issue 2s

Address for correspondence :
Dr. Swathi Gadadasu.
gadadasuswathi5@gmail.com

Abstract

Background:  Van der Woude syndrome is a rare autosomal dominant developmental disorder, occurring in about 1 in 1, 00,000 to 2, 00,000 individuals, caused by deletions in the chromosome band 1q32-q41. It is characterized by congenital lower lip pits, cleft lip and/or cleft palate. Other features associated with this syndrome are congenitally missing teeth, hypodontia, bifid uvula, narrow high arched palate, ankyloglossia, syngnathia, hypernasal voice, congenital heart defects and limb anomalies. The orofacial abnormalities are caused due to mutations in a gene called Interferon Regulatory Factor 6 (IRF6). Literature states that the condition is associated both with consanguineous and non-consanguineous marriages. The diagnosis has to be confirmed with gene mapping. The treatment involves professionals from both the medical and dental fields. This case report describes a rare presentation of van der Woude syndrome in a 33-year-old female patient.

Keywords: Van der Woude syndrome, Cleft lip, Cleft palate, Lip pits, hypodontia.