Borrone dermato-cardio-skeletal (BDCS) and Frank-Ter Haar (FTH) syndromes are autosomal-recessive disorders characterized by cutaneous, cardiovascular (with MVP), skeletal and other abnormalities owing to homozygote mutations in the SH3PXD2B gene (encoding the protein SH3 and PX domains 2B). The gene discussed is SH3PXD2B; the disease is collecting duct carcinoma.