Alagille syndrome
An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.
Disease Alternative Name
People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin.
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Prolonged conjugated hyperbilirubinemia in a neonate is termed as neonatal cholestasis
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. https://www.ncbi.nlm.nih.gov/m/pubmed/30367658/?i=6&from=/31450232/related Abstract BACKGROUND: Jaundice is a common symptom of i...See More
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Recent Cases of Alagille syndrome
Browse recently discussed Alagille syndrome cases by specialistsTop Cases of Alagille syndrome
Selected by editors, top cases are known for unique problem or best solutionTop Alagille syndrome Doctors on Curofy
Top doctors who continously share their opinions on Alagille syndromeGandhi Medical College.
M.B.B.S.
Global Hospital
Gastroenetrology and Hepatology
Global Hospital
GASTROENTEROLOGY
Sir Sunder Lal Hospital
Junior Resident
Institute of Medical Sciences, BHU
MBBS
Mediciti Institute of Medical Sciences
Assistant Professor
Stanley Medical College
MD Pediatrics
SHANTI MEMORIAL HOSPITAL
CONSULTANT PEDIATRICIAN MD,DNB
IPGME&R
MD
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