Arthrogryposis renal dysfunction and cholestasis (ARC) syndrome is a very rare lethal infantile disease caused by loss-of-function mutations in genes coding the vacuolar protein sorting 33 homolog B (VPS33B) or VPS16B. Patients suffer spontaneous or provoked excessive bleeding that may be associated with morbidity and mortality. Here, VPS33B is linked to Arthrogryposis - renal dysfunction - cholestasis.