ABCC9 and hypertrichosis-acromegaloid facial appearance syndrome: This combination of facial features is markedly different from the acromegaloid facial features that characterize Cantú Syndrome and the associated conditions within the same spectrum: Acromegaloid Facial Features (AFF [MIM: 102150])25 and hypertrichosis acromegaloid facial features disorder (HAFF)26, which all arise from GoF mutations in ABCC9. None of our patients have hypertrichosis, unlike Cantú syndrome patients.