Autosomal dominant condition (70% sporadic) with characteristic facies, biliary hypoplasia, vertebral and cardiac abnormalities. JAG1 gene.
Paucity of intrahepatic bile ducts so typically prolonged jaundice, but depending on how many ducts, may not be obvious in first few months. Jaundice gradually improves, but only minority clear completely. 30% progress to cirrhosis.
Posterior embryotoxon (white ring at periphery of cornea) is a clue, but seen in 10% of normal population so not specific.
Cardiac includes pulmonary stenosis, Tetralogy of Fallot.
Facies: broad forehead, triangular face, deepset eyes, long nose with bulbous tip.
Butterfly vertebrae characteristic (asymptomatic – see on chest x-ray).
- Renal Tubular Acidosis, renal cysts
- Growth failure
- Pancreatic insufficiency