Van der Woude syndrome: dentofacial features and implications for clinical practice

Abstract

Background: Van der Woude syndrome (VWS) is the most common clefting syndrome in humans. It is characterized by the association of congenital lower lip fistulae with cleft lip and ⁄ or cleft palate. VWS individuals have a high prevalence of hypodontia. Although caused by a single gene mutation, VWS has variable phenotypic expression. This study aimed to describe the range of clinical presentations in 22 individuals with VWS to facilitate its diagnosis. Methods: A retrospective study of 22 patients with a diagnosis of VWS was undertaken at the Australian Craniofacial Unit (ACFU) in Adelaide. Three extended families with affected members were included in the study cohort. Results: The overall prevalence of lip pits in this study cohort was 86%. Cleft phenotypes included bilateral cleft lip and palate (32%); unilateral cleft lip and palate (32%); submucous cleft palate (23%); and isolated cleft hard and soft palate (9%). Missing permanent teeth were reported in 86% of affected individuals. Conclusions: Submucous cleft palate in VWS may go undiagnosed if the lower lip pits are not detected. Associated hypodontia and resultant malocclusions will also require management by a dental team.

Surgical Treatment of Lip Pits In The Van Der Woude Syndrome

“…The VWS syndrome is the most common form of cleft lip occurring in 2% of all cases, and the lower lip pit is present in 80% of patients affected by the syndrome, being the only manifestation of the disease in 64% of cases [2,4,7]. However, it is a poorly documented disease with few cases described in the literature.…”

“…Some studies report that both sexes are equally affected, including the original article of Woude A. (1954) that describes the pathology [4,5,7]. Other authors describe the prevalence in females and there are also some studies reporting the prevalence in males [6,8].…”

“…In a survey conducted by Lam et al with 22 patients affected by VWS, 7 cases with cleft lip and bilateral cleft palate were found (32%), 7 patients with cleft lip and unilateral cleft palate (32%), 2 cases with isolated cleft palate (9%), 6 patients with submucosal cleft palate (27%) and no case of isolated cleft lip [7].…”

“…Thus, as it is a syndrome caused by mutations in IRF6 gene manifested by changes in chromosome 1q32-q41 and 1p34 (VWS2), there is no cure, but there are treatment options for the signs and symptoms depending on the event, ranging from surgeries in cases of cleft lips and cleft palate through the closure of the clefts, bone grafts, implants, orthodontic and/or orthopedic treatment, dental prosthesis, cosmetic dentistry, in addition to have the cardiac abnormalities monitored and treated by a cardiologist [1][2][3][4][5][6][7][8].…”

Van der Woude syndrome: A review of 11 cases seen at the Lagos University Teaching Hospital

“…[1] The association between congenital fistulas of the lower lip and cleft lip and/or palate was first described by Anne Van der Woude in 1954. [1,2] The world-wide disease incidence ranges from 1:100,000 to 1:40,000. VWS is the most common form of syndromic orofacial clefting and individuals with this syndrome account for 2% of all cleft cases.…”