European Journal of Cardiovascular Medicine

ARC syndrome is a life-threatening autosomal recessive multisystem disorder, caused by mutations in the VPS33B or VIPAR genes and its early diagnosis is of vital importance for the development of an appropriate therapeutic regimen. The cardinal features of ARC syndrome are arthrogryposis, renal tubular acidosis, and neonatal cholestatic jaundice with normal gamma glutamyltranspeptidase (GGT) level. To date, the database includes 49 published variants in VPS33B and 14 published variants in VIPAR worldwide. Here we report a new variant in VPS33B gene mutation in a 50 days old Lebanese baby boy featuring cholestatic jaundice, multiple contractions of lower limbs including talipes equinovarus and laboratory findings of renal tubular acidosis.