The EvC syndrome is categorized as a ciliopathy due to the ciliary localization of the proteins encoded by two causative genes, EVC and EVC2. The identification of a function for EVC/EVC2 in transducing Hedgehog signaling has classified the pathogenic reason for EvC syndrome as defective Hedgehog signaling through aberrant Hedgehog-PTHrP feedback loop in the growth plate. This evidence concerns the gene PTHLH and ciliopathy.