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Crigler-Najjar syndrome

MeSH: D003414ORPHA: 205

Contents

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

Overview

bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)

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 Crigler-Najjar syndrome, sourced from HPO and Orphanet clinical annotations.

JaundiceNeonatal hyperbilirubinemiaUnconjugated hyperbilirubinemiaHypotoniaPoor suckHearing impairmentOphthalmoparesisPruritusSeizureLethargyComaKernicterusHepatosplenomegalyOpisthotonusVertigoDrowsinessMemory impairmentInfectious encephalitisEnamel hypoplasiaAbnormal auditory evoked potentialsHigh-pitched cryCognitive impairment

Classification & Codes

MeSH Code

D003414

Orphanet Code

ORPHA:205
Crigler-Najjar syndrome
MeSHD003414
OrphanetORPHA:205
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO