Facio Genito Popliteal Syndrome―A Review

The finding of cleft lip and/or palate, congenital sinuses of the lower lip, popliteal pterygium, and genital anomalies in any combination was first termed Popliteal Pterygium Syndrome (PPS) by Gorlin and Pindborg in 1964. Rintala and Lahti (1970), on the basis of the term not being fully descriptive, suggested the eponym facio-genito-popliteal syndrome. Nevertheless, it is the original term which is commonly used. The pathogenesis of the syndrome is obscure, though it has been suggested that the hereditary factor involved predisposes to developmental arrest. In some publications the names of Fevre and Languepin are used as an eponym. A more descriptive term suggested for the condition, on the basis of incomplete expression of the features of the syndrome, is ‘facio-genito-popliteal syndrome’. However, the most widely used term for this disorder is ‘popliteal pterygium syndrome’. Autosomal dominant inheritance with highly variable expressivity and incomplete penetrance is widely accepted.