Presentation
The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation.
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching, and deposits of cholesterol in the skin (xanthomas). A liver biopsy may indicate too few bile ducts (bile duct paucity). Other signs of Alagille syndrome include congenital heart problems, particularly pulmonary valve stenosis, an unusual butterfly shape of the bones of the spinal column that can be seen in an x-ray, certain eye defects, and narrow arteries that can lead to brain bleeds/ hemorrhages. Many people with Alagille syndrome have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin. The kidneys and central nervous system may also be affected.
Read more about this topic: Alagille Syndrome
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