Alagille syndrome

Alagille syndrome is a genetic disorder that affects the liver, heart, kidney, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 100,000 live births.

It is named for Daniel Alagille.

Presentation

The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation.

Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), and deposits of cholesterol in the skin (xanthomas). A liver biopsy may indicate too few bile ducts (bile duct paucity) or, in some cases, the complete absence of bile ducts (biliary atresia). Other signs of Alagille syndrome include congenital heart problems, an unusual butterfly shape of one or more of the bones of the spinal column that can be seen in an x-ray, certain eye defects such as posterior embryotoxon, and narrowed pulmonary arteries that can contribute to increased pressure on the right heart valves.