/arthrogryposis-renal dysfunction-cholestasis syndrome

arthrogryposis-renal dysfunction-cholestasis syndrome

Rare Disease

MONDO:0017123

Also Known As

ARC syndromearthrogryposis, renal dysfunction and cholestasis (ARC) syndromearthrogryposis, renal dysfunction, and cholestasisarthrogryposis-renal dysfunction-cholestasisarthrogryposis - renal dysfunction - cholestasisarthrogryposis multiplex congenita, renal dysfunction, and cholestasisarthrogryposis renal dysfunction cholestasis syndrome

Definition

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.