Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

Orpha code: 293864OMIM code: 615710

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.

Disease data
Classification

Malformation syndrome

ORPHA code
293864
OMIM code
615710
ICD10 code
Q45.8
ICD11 code
-

No additional description.

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