Disease - Arthrogryposis, renal dysfunction and cholestasis syndrome 2

  • Definition
    A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.
  • Acronym
    ARCS2
  • Alternative names
    • Arthrogryposis renal dysfunction and cholestasis 2
  • Cross references

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