Genetic variants in PLCB4 have been identified as cause of the Auriculocondylar syndrome 2 (ARCND2), a disease characterized by craniofacial malformations (13), PLCB4 acts as a direct signaling effector of the endothelin receptor type A (EDNRA)-Gq/11 pathway. The gene discussed is PLCB4; the disease is auriculocondylar syndrome.