Alagille Syndrome Symptoms & Causes

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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?

Initial symptoms include jaundice (yellowing of the eyes and skin) and poor growth during the first few months after birth.

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
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