Alagille syndrome is a genetic condition characterized by liver
disease, typical facial features, heart murmurs or defects,
vertebral changes, and eye changes as well as a variety of less
frequently noted features. Alagille syndrome is also called
arteriohepatic dysplasia, cholestasis with peripheral pulmonary
stenosis, syndromatic hepatic ductular hypoplasia, and Alagille-
Watson syndrome. Alagille syndrome is a rare condition occurring
either sporadically or in an autosomal dominant pattern of
inheritance. Approximately 70% of cases are caused by changes in
the Jagged1 gene on chromosome 20. However, the diagnosis of
Alagille syndrome is based on clinical features and family
history. Obtaining medical information about family members can
be difficult as some people with Alagille syndrome are so mildly
affected or have variable symptoms that the condition may go
unrecognized. Prognosis depends on the extent of major organ
involvement, especially of the liver, heart, and kidneys. Liver
transplantation is neede