The FBN2 variant causes Beals syndrome (Congenital contractual arachnodactyly) (MIM:121050), which is characterized by arachnodactyly and camptodactyly [23, 24]; The ANKRD11 mutation causes KBG syndrome, which may contribute to the ASD in this patient [25]. The gene discussed is FBN2; the disease is atrial septal defect.