What is Alagille Syndrome?
Alagille syndrome — also known as Alagille-Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia — is an autosomal dominant inherited disorder associated with liver, heart, eye and skeletal abnormalities, as well as characteristic facial features. Individuals with AGS may have:
Characteristic facial features
- Prominent forehead and pointed chin (giving the face a triangular appearance)
- Deep-set eyes
- Straight nose
Liver problems
- Cholestasis (stoppage of bile flow out of the liver)
- Jaundice (yellow skin color) caused by the liver's failure to properly process bile
- Too few bile ducts (intrahepatic bile duct paucity) seen on liver biopsy
Congenital cardiac (heart) abnormalities
- Peripheral pulmonary stenosis (narrowing of the pulmonary artery)
- Murmur only
- Any cardiac anomaly, although the defects typically affect the right side of the heart (e.g. Tetralogy of Fallot)
Ocular (eye) abnormalities
Renal (kidney) abnormalities
- Renal tubular acidosis
- Structural renal abnormality
Skeletal abnormalities
- Butterfly-shaped vertebrae
- Shortened interpedicular distance
- Short stature
Reviewed by: Binita M. Kamath, MD
Date: January 2009
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