What are the main symptoms of Alagille syndrome?
The main symptoms of Alagille syndrome affect the liver, heart, eyes, face, and skeleton (bones). Liver damage is very common in Alagille syndrome. This damage happens because the bile ducts, the tubes that carry bile from the liver to the gall bladder and the small intestine, do not form properly. Bile helps us digest fats. The bile ducts might be formed differently or there might not be enough of them. This causes bile to back up in the liver and can damage it. Someone with liver damage can have yellow skin and eyes (known as jaundice) and itchy skin.
People with Alagille syndrome can also have heart problems. The most common heart problem is a difference in the blood flow from the heart to the lungs. It is also common to have a combination of heart problems known as "tetralogy of Fallot". There are certain facial features that are common in people with Alagille syndrome, like deep-set eyes, a small pointed chin, and a broad forehead. They might also have differences in the way that their eyes developed, but these don't usually affect their vision. Finally, many people with Alagille syndrome have butterfly-shaped vertebrae, which are the bones in the spinal column.
Alagille Syndrome. GeneReviews. https://www.ncbi.nlm.nih.gov/books/NBK1273/
Alagille Syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/alagille-syndrome