Notably, variations in the SOX18 gene have previously been involved in hypotrichosis–lymphedema–telangiectasia syndrome as well as aortic dilation, pulmonary hypertension, dysmorphic face, renal failure, hydrocele, chylothorax, dysplastic nails, and cutis marmorata in humans [99]. The gene discussed is SOX18; the disease is Cutis marmorata.