In the USA 1 out of 100,000 children is born with an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. This article will shed some light on this rare hepatic disease that is transmitted genetically. It is a Genetic disorder (JAG 1 gene) also known as arteriohepatic dysplasia . Children usually have a liver disease characterized by a progressive loss of the bile ducts within the liver over the first year of life and narrowing of the bile ducts outside the liver.
This leads to a buildup of bile in the liver, causing damage to liver cells. Scarring may occur and lead to cirrhosis in about 30 to 50% of affected children. This disease is often associated with the following conditions: Chronic cholestasis (91%) Cardiac anomalies, most commonly peripheral pulmonic stenosis (85%)…
