Van der Woude Syndrome Associated with Hypodontia: A Rare Clinical Entity

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

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardio...

گزارش یک مورد سندرم VAN DER WOUDE

Van der woude syndrome. Cardinal signs, epidemiology, associated features, differential diagnosis and treatment: a review

The Van der Woude syndrome (VWS), is a rare autosomal dominant disease due to a genetic mutation. The cardinal sign of this syndrome are labial fistulas. It is often associated with cleft lip, labial and palate. Cleft lip in 66.2% of cases, labial in 16,5% of cases and palatal in 17.3% of cases. The treatment of fistula is exclusively for aesthetic reasons, so the main treatment is that of lip ...

A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.

Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, which accounts for approximately 2% of all cleft lip and palate cases. It is characterised by variable association of lower lip pits, cleft lip and cleft palate, and hypodontia. VWS arises as the result of mutations in the gene encoding interferon regulatory factor 6 (IRF6). The disorder is transmitted in an auto...

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

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 di...