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Alagille Syndrome
The following Alagille Syndrome resources may help you find answers related to Alagille Syndrome symptoms, diagnosis, and research.
Definition: A congenital familial syndrome with onset during first three months of life, affecting both sexes. Marked by clinical picture with intrahepatic cholestasis due to hypoplasia of the interlobular biliary duct, neonatal jaundice, hepatomegaly (from 3rd month). Long list of symptoms include dysmorphic (flat) facies sometimes referred to as cholestasis facies, with prominent forehead, mongoloid slant, mild hypertelorism, straight or bulbous nose, and skeletal anomalies; occasionally diffuse xanthomas (palms, extensor areas, creases), and pruritus, Harsh mesosystolic murmur. Growth and mental retardation. In males, hypogonadism. Etiology unknown. Inheritance is autosomal dominant with reduced penetrance and variable expressivity.
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