Transient familial neonatal hyperbilirubinemia

Disease Export to PDF
Name:
Transient familial neonatal hyperbilirubinemia
Description:
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.
ORPHAcode:
2312
Synonyms:
Lucey-Driscoll syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14