What is alagille syndrome?
Alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. However, a group of unusual features in other organ systems distinguishes Alagille syndrome from other liver and bile duct diseases in infants. This disorder is usually present at birth. Alagille syndrome is one of the most common inherited disorders that causes reduced bile flow within the liver. It occurs about once in every 100,000 births.
Alagille syndrome causes problems in the liver, heart, eyes, spine, and kidneys, although not all may be affected in the same person, or to the same degree. People with the syndrome often have a distinctive facial appearance. Children with Alagille Syndrome usually have a liver disease characterized by a progressive loss of the bile ducts within the liver over the first year of life and narrowing of bile ducts outside the liver. This leads to a buildup of bile in the liver, causing damage to liver cells. Scarring may occur and lead to cirrhosis in about 30 to 50% of affected children.