Medical Definition of Pulmonary stenosis, peripheral, with cholestasis

Reviewed on 3/29/2021

Pulmonary stenosis, peripheral, with cholestasis: Also known as arteriohepatic dysplasia or Alagille syndrome, this ia a genetic disorder characterized by jaundice in the newborn period, liver disease with cholestasis, pulmonic stenosis and unusual face. Children with Alagille syndrome usually present with jaundice (yellowing of the skin and whites of the eyes) in the newborn period. Cholestasis (stagnant flow of bile from the liver) then develops with puritis (itching), stools without the usual yellowing brown color, and enlargement of the liver and spleen. Pulmonic stenosis is a form of congenital heart disease (CHD) in which the pulmonic valve (one of four heart valves) is narrowed or stenosed.

Other types of CHD may also occur. The face typically has deep- set eyes, broad forehead, and a small pointed chin. The outlook (prognosis) depends upon the degree of severity of the CHD and the liver disease (it can cause liver failure). The condition is an autosomal dominant trait meaning that the gene for it is on a non-sex chromosome (an autosome) which means it can be inherited from one parent who has the disorder. However it is most often caused by a mutation, or defect, in the Jagged1 (JAG1) gene. The syndrome was first described by Daniel Alagille in the French medical literature in 1969.



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