For more information concerning the panel or to request a membership application. Alagille Syndrome is a, genetic liver disorder that mimics other forms of prolonged liver disease seen in infants and young children. The syndrome is characterized by insufficient passage of bile due to a lower than normal number of bile ducts inside the liver, This disorder is usually present at birth. In some cases, the child may be born with no bile ducts. Jaundice, a prolonged yellow skin discoloration, eye and head structure malformations, abnormally shaped vertebrae, an absence of deep tendon reflexes.
Symptoms can range from mild to severe.
Alagille Syndrome is thought to be inherited as an autosomal dominant trait. It is a rare disorder that frequently occurs in more than one person in a family and in many generations of an affected family. Cholestasis with Peripheral Pulmonary Stenosis. Arteriohepatic Dysplasia, AHD, and Syndromatic Hepatic Ductular Hypoplasia are considered to be synonymous with Atagille Syndrome. Sometimes surgery is necessary during infancy to help establish the diagnosis of Alagille Syndrome by direct examination of the bile duct system.