The Alagille syndrome (AGS) is a congenital genetic multi system disorder
Infants typically present with symptoms relating to the liver where is it one of the commonest causes of hereditary cholestasis.
It is inherited in an autosomal fashion with a mutation in the Jagged 1gene located in the short arm of chromosome 20.
- paucity + / - stenoses of intrahepatic bile ducts : which can eventually lead to liver cirrhosis and hepatic failure 4
- variable, including cystic kidney disease, small kidneys, echogenic kidneys and nephrocalcinosis 5.
- triangular facies
Named after Daniel Alagille : French paediatrician (1925 - )
- 1. Lykavieris P, Hadchouel M, Chardot C et-al. Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. Gut. 2001;49 (3): 431-5. Gut (link) - Free text at pubmed - Pubmed citation
- 2. Quek SC, Tan L, Quek ST et-al. Abdominal coarctation and Alagille syndrome. Pediatrics. 2000;106 (1): E9. Pediatrics (full text) - Pubmed citation
- 3. Anad F, Burn J, Matthews D et-al. Alagille syndrome and deletion of 20p. J. Med. Genet. 1990;27 (12): 729-37. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 4. Unsinn KM, Freund MC, Ellemunter H et-al. Spectrum of imaging findings after pediatric liver transplantation: part 2, posttransplantation complications. AJR Am J Roentgenol. 2003;181 (4): 1139-44. AJR Am J Roentgenol (full text) - Pubmed citation
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