Arthrogryposis renal dysfunction cholestasis syndrome

Synonyms

4

Overview

Arthrogryposis-renal dysfunction-cholestasis syndrome (ARC) is a rare cause of cholestasis in infants and it is characterized by joint contractures, kidney dysfunction and liver problems.

Symptoms

  • Proximally set thumb
  • Scrotal abnormalities
  • Clotting disorders
  • Icterus
  • Restricted joint mobility
  • Talipes varus
  • Talipes valgus
  • Amyotrophy
  • Muscle agenesis
  • Kidney dysfunction
  • Jaundice
  • Nephrocalcinosis
  • Abnormality of the renal tubule
  • Abnormality of thrombocytes
  • Cognitive impairment
  • Limitation of joint mobility
  • Low-set, posteriorly rotated ears

Causes

Causative mutations in VPS33B, a gene that encodes a Class C vacuolar sorting protein, have recently been reported in individuals with ARC. It is reported in the literature that a zebrafish vps33b-ortholog that is expressed in developing liver and intestine.

Resources

  • NIH