Arthrogryposis-renal tubular dysfunction-cholestasis syndrome (MIM No. 208085) is a rare multisystem disorder involving the liver, kidney, skin, and central nervous and musculoskeletal systems. The syndrome is an autosomal-recessive trait, associated with germ-line mutations in the VPS33B gene. We report an Iranian boy of consanguineous cousin parents who had congenital deformities of the upper and lower extremities, severe ichthyosis, cholestasis, intractable pruritus, metabolic acidosis, and failure to thrive. Owing to cholestasis, severe intractable pruritus, and poor quality of life, he underwent a living-related liver transplant from his mother, and his ichthyosis and pruritus dramatically improved. To the best of our knowledge, this is a first case of someone with arthrogryposis-renal tubular dysfunction-cholestasis syndrome who underwent a liver transplant and is in good condition more than 5 years after surgery.