Arthrogryposis renal dysfunction cholestasis syndrome [Supplementary Concept]

A hereditary autosomal recessive disorder characterized by FAILURE TO THRIVE, arthrogryposis, MICROCEPHALY; MICROGNATHIA, cholestasis, renal insufficiency and LIVER DISEASES. Structural cardiac defects may also be present but are uncommon. Death usually occurs in infancy. Mutations in the VPS33B gene have been identified. OMIM: 208085

Date introduced: August 25, 2010

MeSH Unique ID: C535382

Heading Mapped to:

• Arthrogryposis
• Cholestasis
• Renal Insufficiency

Entry Terms:

• ARC syndrome
• Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis
• Arthrogryposis, Renal Dysfunction, And Cholestasis
• Arthrogryposis, renal dysfunction, and cholestasis 1
• ARCS1
• ARCS