Alagille syndrome


Do changes in the NOTCH2 gene cause any conditions other than Alagille syndrome?

There are a few very specific genetic changes in NOTCH2 that cause a condition called Hajdu-Cheney syndrome (also known as serpentine fibula polycystic kidney syndrome). This syndrome causes breakdown of the bones, characteristic facial appearance, cysts (fluid filled sacs) in the kidneys, cleft palate, and heart problems.

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