Alagille syndrome

What is Alagille syndrome?

Alagille syndrome is a genetic condition which affects mainly the liver. Individuals with the syndrome have less than the normal number of bile ducts in their liver.

This rare disease also affects the heart, and other parts of the body too. Symptoms are usually first noticed in infancy.

The syndrome occurs in approximately 1 in every 30,000 live births.

What gene changes cause Alagille syndrome?

88% of cases of the syndrome are caused by mutations to the JAG1 gene, with just 1% caused by mutations to the NOTCH2 gene.

The condition is inherited in an autosomal dominant pattern. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Alagille syndrome?

The majority of the most severe symptoms are the result of lack of bile ducts in the liver causing liver damage and related problems. They might first be noticed by the presence of yellow tinged skin in an affected individual.

In infancy the most common symptoms are jaundice, loose and pale stools as well as poor growth and a failure to thrive. These symptoms generally stabilize between the ages of 4 and 10 years old.

From childhood symptoms include continued, recurrent jaundice, itching, fatty deposits in the skin and delayed growth and development.

Unique facial features of the syndrome include a prominent and broad forehead, deep set eyes, a straight nose, and a small pointed chin. Individuals with the condition also usually have an extra circular line on the surface of their eye.

Other less serious symptoms include a possible heart murmur, although this is rarely indicative of something serious, and spinal bones in the shape of a butterfly that rarely present any medical problems.

How does someone get tested for Alagille syndrome?

The initial testing for Alagille syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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Paula and Bobby
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