Transient familial neonatal hyperbilirubinemia
ORPHA:2312· ICD-10 P59.8
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.
- Prevalence
- Not yet documented
- Age of onset
- Neonatal