Common Causes Of Alagille Syndrome
Alagille syndrome, affecting multiple systems in the body, is a relatively rare, genetic disease typically diagnosed in babies or young children. Symptoms can be life-threatening requiring organ transplants, or they can be nonexistent. Usually resulting in liver damage, it can also cause a hole between the lower ventricles of the heart, which hinders blood flow from the heart to the lungs. Facial features commonly associated with Alagille syndrome include a broad forehead, deep-set eyes, and small chin. It is caused by a mutation of the Jagged1 gene (JAG1). This gene plays a vital role in the body in cell to cell communications during development. The mutation in JAG1 is usually passed down from parent to child in an autosomal dominant fashion.