van der Woude syndrome - a syndromic form of orofacial clefting

Abstract

Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate, cleft lip, lip pits, van der Woude syndrome, syndromic clefting.

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.…”

Supplemental tooth in primary dentition

“…But larger studies failed to find a link between increased maternal age and increased risk of orofacial clefting 6. Increased uptake of multivitamin and folic acid by pregnant women has resulted in significant reduction of orofacial cleft 4 7. Apart from lip deformities, cleft lip is also associated with the presence of supplemental teeth.…”

A Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome

“…Van der Woude syndrome (VWS, OMIM#119300) is an autosomal dominant developmental disorder with variable expression and a high level of penetrance, which characterized by lip pits and cleft lip (CL), cleft lip/palate, or cleft palate only (Van der Woude, 1954). It is the most common syndromic cleft accounting for 2% of all CL and cleft palate (CP) cases, with an incidence of 1:35 000 to 1:100 000 worldwide (Murray et al, 1997; Sudhakara Reddy et al, 2012). Pathogenic variants in the interferon regulatory factor 6 (IRF6) gene has been reported to cause VWS in almost 70% of the affected families among different populations, and mutations in grainyhead-like 3 gene account for another 5% of cases of VWS (de Lima et al, 2009; Peyrard-Janvid et al, 2014).…”