A hereditary autosomal recessive disorder characterized by FAILURE TO THRIVE, arthrogryposis, MICROCEPHALY; MICROGNATHIA, cholestasis, renal insufficiency and LIVER DISEASES. Structural cardiac defects may also be present but are uncommon. Death usually occurs in infancy. Mutations in the VPS33B gene have been identified. OMIM: 208085
Also Known As:
ARC syndrome; ARCS; ARCS1; Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis; Arthrogryposis, Renal Dysfunction, And Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 1