Arthrogryposis-renal dysfunction-cholestasis syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome, or ARC syndrome, is a rare inherited disorder caused by mutations in the VPS33B gene, a gene involved in the cellular transport machinery that sorts proteins into vesicles. It is inherited in an autosomal recessive pattern, meaning a child must inherit a mutated copy of the gene from each parent to be affected. The published record on the condition is limited to a brief description of its genetic cause and classification as an inherited disorder of vesicular transport affecting joints, kidneys and the liver bile flow; its detailed clinical course and treatment are not established here, an honest gap for a future depth pass rather than a padded description.