1. The three main clinical manifestations are craniofacial malformations (orofacial cleft, short palpebra fissure, ankyloblepharon, hipoplastic nose), muscle-skeletal anomalies (bilateral intracrural popliteal pterygia, various digital deformities), and genitourinary anomalies (Cryptorchidisme, agenesis testis or cleft scrotum, inguinal hernia) .