How common is Alagille syndrome?
Alagille syndrome affects about one in 100,000 children.
What causes Alagille syndrome?
It is often a hereditary disease, and most patients have a defect in a certain gene. If one parent carries the mutated gene, there’s a 50 percent chance that each child will inherit the disease.
Occasionally, neither parent has the syndrome but a new defect will occur, and the child will be affected.
What are the symptoms of Alagille syndrome?
Beyond three months, symptoms may include:
- persistent jaundice
- severe itchiness
- cholesterol deposits in the skin (called xanthomas)
- stunted growth or poor weight gain
- heart murmurs (often caused by a narrowing of the arteries that go from the heart to the lungs)
- abnormal "butterfly" shape of the bones in the spinal column
- irregularities of the eyes (does not affect vision)
- abnormal kidney function
- specific facial features, including a broad forehead, deep-set eyes and small, pointed chin