Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a multisystem disorder characterised by abnormalities of the renal, hepatic, musculoskeletal and central nervous system. The clinical features of ARC syndrome include arthrogryposis, renal tubular acidosis, and neonatal cholestatic jaundice. Additional symptoms may present, such as ichthyosis, platelet anomalies, agenesis of the corpus callosum, deafness, recurrent infection, and internal bleeding owing to coagulation dysfunction.
Homozygous or compound heterozygous mutations in the VPS33B gene is known to cause ARC1.