ARC syndrome
ARC syndrome is the association of arthrogryposis, renal tubular acidosis, and cholestasis.
Synopsis
arthrogryposis
renal tubular acidosis with renal Fanconi syndrome
- nephrogenic diabetes insipidus
cholestasis with jaundice
ichthyosis
recurrent febrile illnesses
diarrhoea
failed to thrive
abnormally large platelets
dysmorphism
Etiology
germline mutations in VPS33B (MIM.608552)
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#
Horslen, S. P.; Quarrell, O. W. J.; Tanner, M. S. : Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. J. Med. Genet. 31: 62-64, 1994. PubMed ID : #8151641#