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).