Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. The disease is autosomal dominant popliteal pterygium syndrome (MONDO_0007334). Also known as: popliteal pterygium syndrome 1, popliteal pterygium syndrome, autosomal dominant, popliteal web syndrome.