popliteal pterygium syndrome

Genetics

• autosomal dominant
• penetrance is incomplete & expressivity is variable
• associated with defects in IRF6
• Van der Woude syndrome & popliteal pterygium syndrome are allelic disorders

Clinical manifestations

• skin & genital anomalies
• cleft lip &/or cleft palate
• orofacial phenotypic similarities with van der Woude syndrome

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/119500