Hirschsprung disease-ganglioneuroblastoma syndrome
MeSH: C538119ORPHA: 2151
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Hirschsprung disease-ganglioneuroblastoma syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal pupil morphologyHyperhidrosisSeizureProlonged QT intervalAganglionic megacolonNeoplasm of the nervous systemGanglioneuroblastomaArrhythmia
Classification & Codes
MeSH Code
C538119Orphanet Code
ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome
| MeSH | C538119 |
| Orphanet | ORPHA:2151 |
| Treatments | 0 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO