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Disease Information for Alagille/Arteriohepatic dysplasia syndr: Definition
- Clinical Manifestations (32)
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Alagille Syndrome; AHD ; Arteriohepatic Dysplasia
Cholestasis with Peripheral Pulmonary Stenosis ;
Syndromatic Hepatic Ductular Hypoplasia; Alagille syndrome is a genetic liver disorder usually present at birth; It is characterized by insufficient passage of bile due to a lower than normal number of bile ducts inside the liver; In some cases, the child may be born with no bile ducts; Major symptoms include prolonged yellow skin discoloration (jaundice), eye and heart structure anomalies, abnormally shaped vertebrae of the spine, compression of nerve space inside the lower spine, an absence of deep tendon reflexes, mental deficiency, facial and kidney (renal) abnormalities, shortened fingers, and pancreatic insufficiency----------------[NORD 2005]-----------------------
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