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ARC syndrome

 

ARC syndrome is the association of arthrogryposis, renal tubular acidosis, and cholestasis.

Synopsis

-  arthrogryposis
-  renal tubular acidosis with renal Fanconi syndrome

-  cholestasis with jaundice
-  ichthyosis
-  recurrent febrile illnesses
-  diarrhoea
-  failed to thrive
-  abnormally large platelets
-  dysmorphism

References

-  Eastham KM, McKiernan PJ, Milford DV, Ramani P, Wyllie J, van't Hoff W, Lynch SA, Morris AA. ARC syndrome: an expanding range of phenotypes. Arch Dis Child. 2001 Nov;85(5):415-20. PMID: #11668108#



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