There are many types of genetic anomalies that affect the development of orofacial structures. Van der Woude syndrome (VWS), also known as cleft palate, lip pits or lip pit papilla syndrome, is a rare autosomal dominant condition being considered the most common cleft syndrome. It is believed to occur in 1 in 35,000 to 1 in 100,000 individuals, based on data from Europe and Asia.
It is characterized by the congenital association of lip sinuses with cleft lip and palate. These are the main traits of VWS and occur in 88% of affected individuals. Another common signal/symptom is hypodontia.
Diagnosis of VWS can be done clinically, based on the presence of lip pits and/or other orofacial anomalies that can be present all together or isolated. Most of the development anomalies are congenital so, in most cases, clinical diagnosis can be done immediately after birth.
Almost all cases of VWS are linked to a locus in chromosome 1 (q32-q41) also known as VWS locus 1. The IRF6 gene is located at this critical location and encodes the interferon regulatory factor 6. This gene is expressed in the palate, teeth, hair follicles, external genitals and skin. Mutations in this gene are responsible for the development of this pathology.
Treatment of patients with this syndrome includes all surgical and multidisciplinary procedures for the correction of the presented anomalies.