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Chronic bilirubin encephalopathy

Disease definition

A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.

ORPHA:529808

Classification level: Disorder
  • Synonym(s):
    • BIND
    • Bilirubin-induced neurological dysfunction
    • CBE
    • KSD
    • Kernicterus spectrum disorder
  • Prevalence: -
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Infancy
  • ICD-10: P57.8
  • OMIM: -
  • UMLS: C5575229
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.