Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

Orpha code: 293864OMIM code: 615710

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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