Introduction:
Arthrogryposis renal dysfunction cholestasis (ARC) syndrome is a rare autosomal recessive condition caused by mutations in the VPS33B and VIPAR genes. Several mutations have previously been described and associated with either a severe or mild phenotype, with the severity correlating with fatality. Given the spectrum of phenotypes, milder presentations can be elusive and more difficult to diagnose. Our case illustrates a mild presentation of ARC syndrome with cholestasis that improved over time in the setting of a novel, pathogenic variant (c.1609 del, p. Asp538Metfs*17).