pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ORPHA: 2255
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with pancreatic hypoplasia-diabetes-congenital heart disease syndrome, sourced from HPO and Orphanet clinical annotations.
Neonatal insulin-dependent diabetes mellitusVentricular septal defectAtrial septal defectPatent foramen ovaleExocrine pancreatic insufficiencyIntellectual disabilityFailure to thriveIntrauterine growth retardationSmall for gestational ageIntermittent diarrheaPancreatic hypoplasiaFeeding difficultiesHerniaPancreatic aplasiaCongenital hypothyroidismSeizureNeonatal hypotoniaOligohydramniosTetralogy of FallotPulmonic stenosisPatent ductus arteriosusTransposition of the great arteriesRespiratory distressProlonged partial thromboplastin timePulmonary artery stenosisHypoplasia of right ventricleHypoplastic tricuspid valveDouble outlet left ventricleUreteral duplicationCongenital diaphragmatic herniaCervical ribsSingle umbilical arteryUmbilical herniaIntestinal malrotationBiliary atresiaAnterior pituitary agenesisAplasia/Hypoplasia of the gallbladderInterrupted aortic archCongenital defect of the pericardiumMild microcephaly
Classification & Codes
Orphanet Code
ORPHA:2255pancreatic hypoplasia-diabetes-congenital heart disease syndrome
| Orphanet | ORPHA:2255 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO