Gain-of-function (GOF) mutations in either Kir6.1 (encoded by KCNJ8) or SUR2 (encoded by ABCC9) are causally associated with Cantu syndrome (CS), characterized by coarse facial appearance, hypertrichosis, and multiple cardiovascular abnormalities. This evidence concerns the gene KCNJ8 and hypertrichotic osteochondrodysplasia Cantu type.