Definition of Peripheral pulmonary stenosis with cholestasis
Peripheral pulmonary stenosis with
cholestasis definition - medical term
Also known as arteriohepatic dysplasia
or Alagille syndrome, this ia a genetic disorder
characterized by jaundice in the newborn period, liver
disease with cholestasis, peripheral 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 itching, stools
without the usual yellowing brown color, and enlargement of
the liver and spleen. Peripheral pulmonic stenosis is a
form of congenital heart disease (CHD). Other types of CHD
also occur. The face has deep-set eyes, broad forehead,
long nose with flat tip, prominence of the chin, and low-
set or malformed ears. 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) and a single edition of the
Alagille gene is sufficient to produce the disease. The
gene has been discovered on chromosome 20 in band 20p12. The
syndrome was first described by D. Alagille in the French
medical literature in 1969.
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