(IRF6) Popliteal Pterygium Snydrome
• Cell line state: affected (R84H/N)
• Defects in IRF6 are the cause of popliteal pterygium syndrome (PPS). PPS is an autosomal dominant developmental disorder characterized by cleft lip and/or cleft palate, and skin and genital anomalies. Penetrance is incomplete and expressivity is variable. It shows orofacial phenotypic similarities with van der Woude syndrome. Van der Woude and popliteal pterygium syndrome are allelic disorders.