Urine proteome of the AFD patients was studied by Matafora et al. and allowed the identification of several proteins with an altered expression—among them uromodulin, prostaglandin H2 d-isomerase and prosaposin—that are known to play a role in the processes that might be involved in the disease pathophysiology, as inflammation and glycosphingolipid metabolism. This evidence concerns the gene PSAP and Nager acrofacial dysostosis.