popliteal pterygium syndrome
A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.
MONDO:0015501
obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
excluded_subClassOf
MONDO:0015225
arthrogryposis syndrome
is_a
MONDO:1040010
IRF6-related condition
is_a
PPS
exact