hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MTCHRS
related
Mitchell-Riley syndrome
exact
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
exact