Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment

Abstract

Congenital pits of the lower lip constitute a rare developmental malformation, transmitted by an autosomal dominant mode, with considerable heterogeneity as regards the expression of the disorder. They are present in van der Woude syndrome (VWS), in which clefts of the upper lip and/or palate are often observed. Literature related to the various parameters associated with and relevant to the disorder is extensive. The purpose of this review is to cover, synthesize and categorize the existing knowledge into distinct entities, in order to facilitate understanding of the aetiopathogenesis of the malformation, its clinical manifestations and histological features, the epidemiology of the syndromic situation and the fundamental approach to an integral differential diagnosis. Special emphasis is given to the rationale underlying the treatment modalities that have been suggested, and the necessity for appropriate genetic counselling, as the disorder shows a high affinity with clefts and a familial type of occurrence.

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

“…These include bilateral symmetric, bilateral asymmetric, unilateral (which are considered incomplete expressions of the trait), median and microforms. 9 The microforms of the lip pits occur as conical elevations, transverse mucosal ridges, or openings with no depth. 14,24 In early childhood, the pits are often on the vermillion zone of the lower lip and are centered on top of conical elevations, but they progress to form simple depressions in adulthood, which can be asymptomatic.…”

“…4 Other cardinal signs of VWS include hypodontia in addition to orofacial clefting. 4,9 Almost all cases of VWS have shown linkage to a region at chromosome 1q32-p41, known as VWS locus 1. However, some affected individuals have instead shown linkage to a second chromosomal locus (VWS locus 2), which is located at 1p34.…”

Identification of IRF6 gene variants in three families with Van der Woude syndrome

“…Among syndromic disorders, the highest number comprise cases of Van der Woude syndrome (VWS: OMIM 119300) which accounts for 2% of all cleft cases (6)(7)(8)(9). Apart from the difference in the mode of inheritance which is autosomal dominant with high penetrance, its phenotype closely resembles the phenotype for the common non-syndromic forms of CL/P with complex pattern of inheritance (10).…”

Symblepharon Following Seizure: Clinical Case Scenario and Review of Literature

“…In instances of inflammation with associated mucoid or mucopurulent secretions, mucosal ulcerations or trauma, healing might result in synechiae formation if two mucosal surfaces come in close contact. Symblepharon has been reported in ocular surface disturbances such as chemical burns In a rare syndromic association with ankyloglossus, Rizos et al 5 reviewed that some cases of symblepharon have multipolar genetic expresssivity. Acute generalized exanthematous pustulosis (AGEP) has been described by Speeckaert et al 6 in which a possible drug allergy or acute infections elicit significant adverse cutaneous reactions.…”