Which clinical manifestation is characteristic of Alagille syndrome?

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Alagille syndrome is a genetic disorder that affects multiple organ systems, primarily the liver, heart, and skeletal structure. The hallmark features of the syndrome include a triad of clinical manifestations: cholestatic jaundice (often due to bile duct paucity), cardiac defects, and characteristic facial features.

Jaundice and itching, resulting from the accumulation of bile acids, are particularly prominent in individuals with liver involvement, which is often seen in Alagille syndrome. Short stature and cardiac defects are equally significant, as children with this syndrome frequently exhibit growth delays and may have congenital heart disease. Additionally, severe biliary obstruction, while not universally present, can occur due to the lack of adequate bile ducts resulting in cholestasis.

Given that Alagille syndrome can manifest with a combination of these features—jaundice, organ-specific issues like cardiac anomalies, and growth problems—it is accurate to state that all these elements can be characteristic of the syndrome. This multifaceted presentation of symptoms adheres to the comprehensive understanding of the disease, hence bringing together the different components into one option that encompasses the variability of Alagille syndrome.

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