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

arteriohepatic dysplasia

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Concluded Case

Priyankha Gigi

MBBS Student

ALAGILLE SYNDROME normal liver portal and bile ducts completely absent mutations in jagged 1 gene on chromosome 20

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Lakshmi Venkata Simhachalam Kutikuppala

MBBS Student

People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin.

Concluded Case

Bhavya Arora

MBBS Student

NEONATAL CHOLESTASIS 1) Bile duct obstruction Extrahepatic biliary atresia 2) Neonatal infection Cytomegalovirus Bacterial sepsis Urinary tract infection Syphilis 3) Toxic Drugs Parenteral nutrition 4) Genetic disorders Tyrosinemia Ne...See More

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Concluded answer

Bhavya Arora

MBBS Student

Prolonged conjugated hyperbilirubinemia in a neonate is termed as neonatal cholestasis