ARSK and trichohepatoenteric syndrome: SKIC3 gene is highly expressed in placenta, mutations in this gene cause trichohepatoenteric syndrome one of the features of which is facial dysmorphism (prominent forehead and cheeks, broad nasal root and wide-spaced eyes) [56]. A study of 4 patients with functional mutations in ARSK found that all 4 had mild coarse facial features, midface retrusion, full lips as well as disproportionate short-trunk, short stature, and genu valgus [58]