Syndrome, Alagille
Also known as arteriohepatic dysplasia, this is 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. 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.

Medical dictionary. 2011.

Look at other dictionaries:

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  • Alagille syndrome — Also known as arteriohepatic dysplasia, this is 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… …   Medical dictionary

  • Alagille-Syndrom — Klassifikation nach ICD 10 Q44.7 Sonstige angeborene Fehlbildungen der Leber Alagille Syndrom …   Deutsch Wikipedia

  • Syndrome de DiGeorge — Microdélétion 22q11 Pour les articles homonymes, voir Syndrome de Shprintzen. Micro délétion 22q11 …   Wikipédia en Français

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  • Alagille syndrome — arteriohepatic dysplasia an inherited condition in which the bile ducts, which drain the liver, become progressively smaller, causing increased jaundice. It is associated with abnormalities of other organs, such as the heart, kidneys, eyes, and… …   The new mediacal dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Alagille — Daniel, French physician, *1925. See A. syndrome …   Medical dictionary

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