A rare inherited liver disorder seen in infants and young children. The disease is characterized by a buildup of bile in the liver due to a deficiency or absence of normal bile ducts inside the liver and a narrowing of bile ducts outside the liver. Symptoms of the disorder can include jaundice, stunted growth, fatty deposits in the skin, facial deformities, and abnormalities in the heart, eyes, vertebrae, and kidneys.

Dr. Settara Chandrasekharappa, of the National Human Genome Research Institute's Genetics and Molecular Biology Branch, defines Alagille syndrome.

Related terms: gene, inherited.