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Transient familial neonatal hyperbilirubinemia

Disease definition

A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.

ORPHA:2312

Classification level: Disorder
  • Synonym(s):
    • Lucey-Driscoll syndrome
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: P59.8
  • OMIM: 237900
  • UMLS: C0270210
  • MeSH: -
  • GARD: 2791  3304
  • MedDRA: -
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