Van Maldergem syndrome, an autosomal-recessive multiple malformation syndrome, shows a partially penetrant PH phenotype caused by mutations in FAT4 or DCHS1. Dchs1 is the ligand of the Fat4 receptor and the complex they constitute is situated apically, closer to the ventricle relative to adherens junctions. The gene discussed is DCHS1; the disease is Cerebro-facio-articular syndrome.