Arthrogryposis-renal dysfunction-cholestasis syndrome (ARC syndrome)
The phenotype is variable and may include:3
The clinical diagnosis consists of identifying:
3. INSERM. Orphanet. European Union: The portal for rare diseases and orphan drugs. 2021 (accessed 09/2021 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.