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

Abstract

Background Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene. It is reported to be the most common syndromic cleft worldwide. Non-penetrance for the lip pit phenotype is found in at least 10% of affected individuals and those without the pits are phenocopies for non-syndromic clefting. The aim of this study is to present the phenotypic characteristic of VWS seen at the Lagos University Teaching Hospital (LUTH) cleft clinic. Materials and Methods A review of cases of patients with VWS that attended the cleft lip and palate clinic at the LUTH Idi-Araba, Lagos, from January 2007 to December 2012 was conducted. Data analyses included sex of affected patients, types of cleft, presence of lower lip pits and history of lower lip pits/cleft in the family. Results A total of 11 cases were seen during the period (male = 4; female = 7). Age at presentation ranged between 1 week and 12 years, with majority (n = 10) less than 2 years of age. Bilateral cleft lip and palate (BCLP) was seen in six patients, isolated soft palatal cleft (n = 3) and unilateral cleft lip and alveolus (n = 1) and cleft of hard and soft palate (n = 1). Bilateral lower lips were presented in 10 out of the 11 cases. The mother of the only patient without lip pits presented with bilateral lower lip pits. No family history of cleft/lip pits was elicited in 10 other cases. Conclusion Most of the cases of VWS presented with BCLP and lower lip pits. Non-penetrance for the lip pits was seen in one out of 11 cases. Our study emphasizes the need to screen family members in all cleft cases, especially clinically diagnosed non-syndromic cases who may be VWS with no lip pits. Future studies are required to investigate the genetic causes of this syndrome in our population.

Características clínicas em sujeitos com síndrome de van der woude: uma revisão integrativa

“…Após a leitura dos textos completos, foram excluídos 23 artigos que não se enquadravam nos critérios de inclusão pré-estabelecidos (9 artigos com foco exclusivamente genético; 7 artigos que não descreviam as características fenotípicas dos sujeitos analisados; 3 artigos de relato de caso clínico; 2 cartas ao editor; 1 artigo de revisão de literatura; e, 1 artigo com foco nas fissuras labiopalatinas e não na síndrome de Van der Woude). Ao final dessas duas fases de análise, 9 artigos contemplavam os critérios de inclusão estabelecidos (LI et al, 2018;JAMES et al, 2014;MALIK;WILCOX;NAZ, 2014;LAN et al, 2010;MARTELLI-JÚNIOR et al, 2007;HUANG et al, 2007;KANTAPUTRA et al, 2002;JANKU et al, 1980;SHPRINTZEN;GOLDBERG;SIDOTI, 1980), os quais constituíram a revisão.…”

Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report

“…VWS is a rare developmental disorder, yet it is the most common form of orofacial cleft syndrome, accounting for nearly 2% of all cleft lip and palate cases 1 3 6 . Previous attempts at identifying the genes responsible for VWS have not been successful; therefore, no single gene has been implicated as the cause of this condition.…”

“…Lip pits are the most consistent feature of the syndrome and in some cases can be the only manifestation of the syndrome. Approximately 90% of VWS patients display lower lip pits, and in about 64% of cases, lip pits are the only visible defects 3 . The most accepted theory of lip pit development in VWS involves notching of the lip at the early stage of labial development with fixation of the tissue at the base of the notch 5 .…”

“…The most consistent feature is the occurrence of lip pits on the vermilion border of the lower lip, which are seen in nearly 90% of the cases 2 . Classically, patients present with two bilateral and symmetrical paramedian pits on either side of the midline of the lower lip 1 2 3 4 . However, they can also be unilateral, medial, or bilaterally asymmetrical 2 4 .…”

“…However, they can also be unilateral, medial, or bilaterally asymmetrical 2 4 . A single pit usually represents an incomplete expression of the syndrome 3 . Rarely, VWS is associated with a number of other findings like hypodontia, ankyloglossia, limb deformities, ankyloblepheron, genitourinary, cardiovascular abnormalities, and popliteal webs 2 3 4 5 .…”