Van Der Woude Syndrome: A Case Series at Chu D’ Treichville, Abidjan, Cote D’ Ivoire

BACKGROUND: Van der Woude syndrome (VWS), characterised mainly by lower lip pits and orofacial cleft (OFC), is the most common syndrome associated with an OFC. It is inherited as an autosomal dominant, high penetrance disorder with variable phenotypic expression and caused by the genetic mutation of the interferon regulatory factor 6 gene (IRF6). This study showcases the syndrome’s variable phenotypic expressivity in six cases seen at Chu d’ Treichvile, Abidjan, and Cote d’Ivoire. MATERIALS AND METHODS: A review of six cases at the above-named hospital. Data collected include age at presentation, gender, type of cleft, presence or absence of lip pits, and family history of VWS. RESULTS: Six cases of VWS were reviewed with an age range from 2 to 39 years and a male-to-female ratio of 1:2. Three of the patients had a bilateral cleft lip, one case of unilateral cleft lip and palate, another single case of cleft palate only while the sixth patient has no cleft deformity. All the patients have bilateral lower lip pits except one with a single median pit on the lower lip. There is a family history of VWS in three of the patients. CONCLUSION: Our study demonstrates the variable expressivity of VWS as different forms of lower lip pits and OFC. The presence of lower lip pits should be a signal for examination of family members to identify other cases and those likely to have cleft babies. Genetic mapping to detect mutation of IRF6 genes will be of tremendous aid in the effective diagnosis of VWS.