Craniofacial characteristics in Van der Woude syndrome

Abstract

The Van der Woude syndrome (VWS; OMIN #119300) is a rare dysmorphic disease of genetic origin (Dissemond et al., 2004). It is characterized by the presence of lower lip pits in relation to the cleft lip and/or palate (Dissemond et al., 2004) and it is the most frequent form of syndromic clefting, accounting for 2% of all cleft lip and palate cases [prevalence 1:40000 to 1:100000 live births].Furthermore, there are no significant differences between sexes (Cervenka et al., 1967;Rizos & Spyropoulos, 2004).

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

“…Van der Woude syndrome (VWS; OMIM # 119300 ) is an autosomal dominant clefting disorder associated with lower lip pits and cleft lip and/or cleft palate ( Alade et al, 2020 ; Estevez-Arroyo et al, 2023 ; Gurpal-Chhabda and Singh-Chhabda, 2018 ). Mutations of interferon regulatory factor 6 ( IRF6 ) and grainy head like 3 ( GRHL3 ) genes have been implicated in VWS ( Estevez-Arroyo et al, 2023 ).…”

“…Van der Woude syndrome (VWS; OMIM # 119300 ) is an autosomal dominant clefting disorder associated with lower lip pits and cleft lip and/or cleft palate ( Alade et al, 2020 ; Estevez-Arroyo et al, 2023 ; Gurpal-Chhabda and Singh-Chhabda, 2018 ). Mutations of interferon regulatory factor 6 ( IRF6 ) and grainy head like 3 ( GRHL3 ) genes have been implicated in VWS ( Estevez-Arroyo et al, 2023 ). Other oral manifestations include partial anodontia, dental transposition, supernumerary tooth, taurodontism, scissors bite, anterior crossbite, temporomandibular disorder, narrow high arched palate, and ankyloglossia ( Estevez-Arroyo et al, 2023 ).…”

“…Mutations of interferon regulatory factor 6 ( IRF6 ) and grainy head like 3 ( GRHL3 ) genes have been implicated in VWS ( Estevez-Arroyo et al, 2023 ). Other oral manifestations include partial anodontia, dental transposition, supernumerary tooth, taurodontism, scissors bite, anterior crossbite, temporomandibular disorder, narrow high arched palate, and ankyloglossia ( Estevez-Arroyo et al, 2023 ). Congenital anodontia may contribute to narrowing of the dental arches, especially in the maxilla due to associated clefting that results in malocclusion and a need for orthodontic intervention ( Lam et al, 2010 ).…”