Alagille syndrome

Definition:

Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and tetralogy of Fallot. Affected individuals show typical facies and abnormal butterfly vertebrae as well. Mutations in the Notch pathway cause ALGS.

References:

[1]. Ashleigh A Richards, et al. Genetics of congenital heart disease. Curr Cardiol Rev. 2010 May;6(2):91-7. [Content Brief]

[2]. Emily T Shifley, et al. The vertebrate segmentation clock and its role in skeletal birth defects. Birth Defects Res C Embryo Today. 2007 Jun;81(2):121-33. [Content Brief]

[3]. Ryan McDaniell, et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul;79(1):169-73. [Content Brief]

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