Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations of the <i>VPS</i>33<i>B</i> encoding the vacuolar protein sorting 33B (VPS33B), which is involved in the intracellular protein sorting and vesicular trafficking. This evidence concerns the gene VPS33B and Arthrogryposis - renal dysfunction - cholestasis.