Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
MONDO:0017400Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is 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.
Also known as: Mitchell-Riley syndrome, hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, MTCHRS, diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
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