Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Definition
Hypoplastic 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 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Mitchell-Riley syndrome — per MONDO