Van der Woude syndrome - a syndromic form of orofacial clefting

R Sudhakara Reddy,T Rajesh Singh,N Vijayalaxmi,La Swapna,R Lavanya Reddy,T Ramesh

doi:10.4317/jced.50559

Abstract

Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate, cleft lip, lip pits, van der Woude syndrome, syndromic clefting.

Highlights

Orofacial clefting (OFC) is a common developmental genetic disorder that occurs with a prevalence which has been estimated at between 1 in 2500 live births depending on geographic origin, racial and ethnic variation, and socio-economic status(1). van der Woude Syndrome (VWS) is the most common form of syndromic Orofacial clefting accounting for 2% of all cases (2)
In present case cleft lip and cleft palate were associated with bilateral paramedian lip pits, hypodontia, hypoplasia of teeth and shrunken uvula, which represents a syndromic form of OFC
When the labial pits occur in association with cleft lip and/or palate the condition is referred to as van der Woude Syndrome (VWS) (4)

Summary

Introduction

Orofacial clefting (OFC) is a common developmental genetic disorder that occurs with a prevalence which has been estimated at between 1 in 2500 live births depending on geographic origin, racial and ethnic variation, and socio-economic status(1). van der Woude Syndrome (VWS) is the most common form of syndromic Orofacial clefting accounting for 2% of all cases (2). Lower lip pit(s) and cleft lip and palate are the cardinal features of this syndrome, having a prevalence rates varying from 1: 100000 to 1: 400000 still born or live births with equal sex predilection (3). Etiology of this syndrome is remarkably variable, it was initially mapped to human chromosome 1q 32 – q 41 and later demonstrated to result from mutation in gene encoding Interferon Regulatory Factor 6 [IRF 6] (2). In present case cleft lip and cleft palate were associated with bilateral paramedian lip pits, hypodontia, hypoplasia of teeth and shrunken uvula, which represents a syndromic form of OFC

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