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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Recent Cases of Alagille syndrome

Browse recently discussed Alagille syndrome cases by specialists
Concluded Case

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

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Concluded answer

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


Concluded Case

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

Prolonged conjugated hyperbilirubinemia in a neonate is termed as neonatal cholestasis


Top Cases of Alagille syndrome

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Top Alagille syndrome Doctors on Curofy

Top doctors who continously share their opinions on Alagille syndrome
Telangana State, Hyderabad.
552 followers

Gandhi Medical College.

M.B.B.S.

User Languages
Speaks English, Hindi, Telugu
Nagpur
1389 followers

Global Hospital

Gastroenetrology and Hepatology

Global Hospital

GASTROENTEROLOGY

User Languages
Speaks English, Hindi, Marathi, Tamil
Varanasi
155 followers

Sir Sunder Lal Hospital

Junior Resident

Institute of Medical Sciences, BHU

MBBS

User Languages
Speaks English
Hyderabad
48 followers

Mediciti Institute of Medical Sciences

Assistant Professor

Stanley Medical College

MD Pediatrics

User Languages
Speaks English, Hindi, Tamil, Telugu
Rourkela
336 followers

SHANTI MEMORIAL HOSPITAL

CONSULTANT PEDIATRICIAN MD,DNB

IPGME&R

MD

User Languages
Speaks Bengali, English, Hindi, Oriya

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