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Lucey-Driscoll syndrome(HBLRTFN)

MedGen UID:
75718
Concept ID:
C0270210
Disease or Syndrome
Synonyms: HBLRTFN; Transient familial neonatal hyperbilirubinemia
SNOMED CT: Transient familial neonatal hyperbilirubinemia (47444008); Lucey-Driscoll syndrome (47444008)
 
Gene (location): UGT1A1 (2q37.1)
 
Monarch Initiative: MONDO:0009383
OMIM®: 237900
Orphanet: ORPHA2312

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. [from ORDO]

Clinical features

From HPO
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Bilirubin encephalopathy
MedGen UID:
44018
Concept ID:
C0022610
Disease or Syndrome
Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.
Neonatal unconjugated hyperbilirubinemia
MedGen UID:
107542
Concept ID:
C0559506
Disease or Syndrome

Recent clinical studies

Diagnosis

Memon N, Weinberger BI, Hegyi T, Aleksunes LM
Pediatr Res 2016 Mar;79(3):378-86. Epub 2015 Nov 23 doi: 10.1038/pr.2015.247. PMID: 26595536Free PMC Article

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