Rare. Association of arthrogryposis, renal tubular acidosis and cholestasis. Sometimes associated with a thrombopathy similar to 'grey platelets' syndrome. Death during the first year of life.

Anesthetic implications: 

Risk of bleeding: check the morphology of platelets, platelets function tests are normal.

References : 

-        Hayes JA, Khar WHA, Lo B, McPherson BA. 
Liver biopsy complicated by hemmorrhage in a patient with ARC syndrome. 
Pediatr Anesth 2004; 14: 960-3.

-        Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW. 
Clinical characteristics and VPS33B mutations in patients with ARC syndrome. 
J Pediatr Gastroenterol Nutr 2009; 48:348-54.

Updated: November 2019