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arthrogryposis–renal dysfunction–cholestasis syndrome

MeSH: C535382ORPHA: 2697

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with arthrogryposis–renal dysfunction–cholestasis syndrome, sourced from HPO and Orphanet clinical annotations.

Failure to thrive in infancyArthrogryposis multiplex congenitaRenal tubular dysfunctionHyperkeratosisIntellectual disabilityRenal Fanconi syndromeChronic diarrheaHepatomegalyRecurrent infectionsConjugated hyperbilirubinemiaNeonatal cholestatic liver diseaseAplasia/Hypoplasia of the corpus callosumIchthyosisCongenital bilateral hip dislocationAbnormal platelet countAbnormal alpha granulesAbnormal platelet aggregationNephrocalcinosisMicrocephalyHearing impairmentLow-set earsHypothyroidismOsteopeniaCutis laxaHypotoniaDecreased fetal movementOligohydramniosPathologic fractureSkeletal muscle atrophyIntrahepatic biliary atresiaNephrogenic diabetes insipidus

Classification & Codes

MeSH Code

C535382

Orphanet Code

ORPHA:2697
arthrogryposis–renal dysfunction–cholestasis syndrome
MeSHC535382
OrphanetORPHA:2697
Treatments0 drug(s)
Symptoms on record31 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO