Arthrogryposis-renal dysfunction-cholestasis syndrome (ARC syndrome)

ARC syndrome is an autosomal recessive disease characterised by immobility of the limbs and fixation of joints with muscle wasting (neurogenic arthrogryposis multiplex congenita), renal tubular dysfunction and neonatal cholestasis.8
ARC syndrome is a life-threatening disorder. Although the prevalence is unknown, fewer than 100 patients have been reported in the literature.3,8

The phenotype is variable and may include:3

Diagnosis

The clinical diagnosis consists of identifying:

Diagnosis is confirmed by sequence analysis of VPS33B and VIPAR.8

3. Orphanet: The portal for rare diseases and orphan drugs. 2020. at https://www.orpha.net/consor/cgi-bin/Disease.php?lng=EN.)

8. Zhou Y, Zhang J. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features. Ital J Pediatr 2014;40:77.