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ARC syndrome
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ARC syndrome

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Contributors: Catherine Moore MD
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Synopsis

A rare autosomal recessive disorder characterized by three cardinal features: arthrogryposis, renal tubular dysfunction, and neonatal cholestasis with low serum gamma-glutamyl transferase activity. Caused by mutations in the VPS33B gene.

Other neonatal signs and symptoms include failure to thrive, hyperbilirubinemia, jaundice, facial dysmorphism, sensorineural deafness, joint contractures, ichthyosis, diarrhea, recurring infections, bleeding tendency, developmental delay, and abnormalities of the central nervous system.

Management includes treatment for cholestasis, metabolic acidosis, and related liver disorders. Prognosis is poor as most die during infancy.

For more information, see OMIM.

Codes

ICD10CM:
Q68.8 – Other specified congenital musculoskeletal deformities

SNOMEDCT:
62216007 – Familial arthrogryposis-cholestatic hepatorenal syndrome

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Last Updated: 03/29/2017
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ARC syndrome
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ARC syndrome : Jaundice, Failure to thrive, Hyperbilirubinemia
Copyright © 2019 VisualDx®. All rights reserved.