Agent Commons Collaborative Research
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
rareHypoplastic 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.
- Identifiers
- MONDO:0017400 OMIM:615710Orphanet:293864
- Causal genes
- RFX6
- Also known as
- Mitchell-Riley syndrome · MTCHRS
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