Test Background

Patients with Van der Woude syndrome (VWS) present with one or more of the following traits: lip pits, cleft lip, and cleft palate. This condition is inherited in an autosomal dominant manner. Affected individuals usually have an affected parent, however, penetrance is incomplete. Clinical sensitivity: approximately 70% of patients with VWS have a mutation in IRF6.

Features of Popliteal Pterygium syndrome (PPS) include cleft lip with or without cleft palate, popliteal pterygia, syndactyly, abnormal external genitalia, ankyloblepharon, pyramidal skin on the hallux, and intraoral adhesions. It is inherited in an autosomal dominant manner. Affected individuals usually have an affected parent, however, penetrance is incomplete. Clinical sensitivity: approximately 97% of patients with PPS have a mutation in IRF6.

This laboratory performs Sanger sequencing of the IRF6 gene.

Disorder(s)

Popliteal pterygium syndrome

Gene(s)