ARC syndrome: an expanding range of phenotypes

Aim—To describe the clinical phenotype in infants with ARC syndrome, the associ-ation of arthrogryposis, renal tubular aci-dosis, and cholestasis. Methods—The medical records for six patients with ARC syndrome were re-viewed, presenting over 10 years to three paediatric referral centres. Results—All patients had the typical pat-tern of arthrogryposis. Renal Fanconi syn-drome was present in all but one patient, who presented with nephrogenic diabetes insipidus. Although all patients had severe cholestasis, serum ã glutamyltransferase values were normal. Many of our patients showed dysmorphic features or ichthyosis. All had recurrent febrile illnesses, diar-rhoea, and failed to thrive. Blood films revealed abnormally large platelets. Conclusions—ARC syndrome exhibits no-table clinical variability and may not be as rare as previously thought. The associ-ation of Fanconi syndrome, ichthyosis, dysmorphism, jaundice, and diarrhoea has previously been reported as a separate syndrome: our observations indicate that it is part of the ARC spectrum