Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

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A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes hypoplastic or annular pancreas duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction failure to thrive malnutrition intestinal malrotation malabsorption conjugated hyperbilirubinemia acholia and infections. Cardiac anomalies may also be associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome?

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Clinical Trials

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