Because notch signaling is important for many aspects of fetal development, Alagille Syndrome doesn't just affect the liver, causing cholestasis. Other findings include:
cardiac disease--especially pulmonary valve stenosis, but also ASH, VSD, PDA, TOF, and even WPW
skeletal abnormalities such as butterfly vertebrae
ocular abnormalities--usually posterior embryotoxon with prominent Schwalbe's line
renal dysplasia, which can lead to chronic hypertension
CNS psychopathy such as Moyamoya disease or aneurysms
failure to thrive--specifically short length/height in the setting of fat-soluble vitamin deficiencies; mild developmental delay and intellectual disability may also be seen
Characteristic facial features may develop as a child ages, including broad forehead, pointed chin, and long nose with bulbous tip. Image: Posterior embryotoxon and prominent Schwalbe’s line (arrows). Courtesy The Childhood Liver Research Network.
