Arthrogryposis, Renal Dysfunction and Cholestasis (ARC) Syndrome is a rare multisystemic disorder that presents at birth or infancy. The mutation protein is involved in the regulation of vesicle-to-target SNARE complex formation and membrane fusion.
Gene affected: VPS33B (vacuolar protein sorting 33 homolog B)
Chromosome: 15q26.1
Inheritance: autosomal recessive
Clinical features:
(1) arthrogryposis multiplex congenita (congenital joint contractures in >= 2 areas of the body)
