Синдром гіпопластичної підшлункової залози-атрезії кишечника-гіпопластичного жовчного міхура
ORPHA:293864· ICD-10 Q45.8· Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal