ARC syndrome: an expanding range of phenotypes

Aim-To describe the clinical phenotype in infants with ARC syndrome, the as sociation of arthrogryposis, renal tubular acidosis, and cholestasis. Methods-The medical records for six patients with ARC syndrome were reviewe d, presenting over 10 years to three paediatric referral centres. Results-All patients had the typical pattern of arthrogryposis. Renal Fanco ni syndrome was present in all but one patient, who presented with nephroge nic diabetes insipidus. Although all patients had severe cholestasis, serum gamma glutamyltransferase values were normal. Many of our patients showed dysmorphic features or ichthyosis. All had recurrent febrile illnesses, dia rrhoea, and failed to thrive. Blood films revealed abnormally large platele ts. Conclusions-ARC syndrome exhibits notable clinical variability and may not be as rare as previously thought. The association of Fanconi syndrome, icht hyosis, dysmorphism, jaundice, and diarrhoea has previously been reported a s a separate syndrome: our observations indicate that it is part of the ARC spectrum.