What is Alagille syndrome?

Alagille syndrome is an inherited disorder that closely resembles other forms of liver disease seen in infants and young children. However, a group of unusual features affecting other organs distinguishes Alagille syndrome from the other liver and biliary diseases of infants.

Children with Alagille syndrome usually suffer 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.

What are the symptoms of Alagille syndrome?

Symptoms of Alagille syndrome are jaundice; pale, loose stools; and poor growth within the first three months of life. Later, there is persistent jaundice, itching, fatty deposits in the skin, and stunted growth and development during early childhood. The disease often stabilizes between ages four and ten with an improvement in symptoms.
Other features, which help establish the diagnosis, include abnormalities in the kidneys, cardiovascular system, eyes, and spine. Narrowing of the blood vessel connecting the heart to the lungs leads to heart murmurs but rarely causes problems in heart function. The shape of the bones of the spinal column may look like the wings of a butterfly on x-ray, but this shape almost never causes any problems with function of the nerves in the spinal cord.

More than 90% of children with Alagille syndrome have an unusual abnormality of the eyes. An extra, circular line on the surface of the eye can be detected during a specialized eye examination. In addition, some children may have some changes in kidney function.

Many physicians believe that there is a specific facial appearance shared by most of the children with Alagille syndrome that makes them easily recognizable. The features include a prominent, broad forehead; deep-set eyes; a straight nose; and a small pointed chin.