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Alagille syndrome: [MIM 118450] an autosomal dominant syndrome that becomes apparent in childhood and is associated with jaundice resulting from a paucity of intrahepatic bile ducts; characteristics include a narrow face and pointed chin, broad forehead, long, straight nose, deep-set eyes, posterior embryotoxon in the eye, cardiovascular abnormalities, vertebral defects, and nephropathy.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.
Intrahepatic cholestasis caused by paucity of interlobular bile ducts associated with cardiovascular and other anomalies. Major abnormalities include characteristic facies (prominent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %. Cerebrovascular complications may include the moyamoya syndrome (progressive obliteration of the intracranial carotid arteries and formation of an extensive vascular network of dilated small branches. The disorder was first reported in Japanese children, and the angiographic appearance of thus formed fine network was described by the Japanese expression "moyamoya," meaning "something hazy, like a puff of smoke drifting in the air," as seen on the radiograph).
- (Source - Diseases Database)
Autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis.
- (Source - CRISP)
Alagille syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Alagille syndrome, or a subtype of Alagille syndrome,
affects less than 200,000 people in the US population.
- (Source - National Institute of Health)
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