VAN DER WOUDE SYNDROME

we have a special interest in individuals and families who have been diagnosed with Van Der Woude Syndrome (VWS). Those with a VWS diagnosis Are encouraged to participate in our study domestically and internationally!

What is Van Der Woude Syndrome?

Van Der Woude Syndrome (VWS) is a rare condition caused by a mutation of the IRF6 or GRHL3 genes. VWS is inherited in an Autosomal Dominant pattern, accounting for ~2% of all clefts, and is estimated to occur in approximately 1 out of every 35,000 people.

Affected persons can be born with some combination of cleft lip, cleft palate, and/or lip pits. In some cases a person can have a mutation in these genes but not show any signs or symptoms of the disorder.

Approximately 25% of VDWS individuals do not have an identified IRF6 or GRHL3 mutation- the pathogenesis for these cases is still unknown and is an area of interest for our research.