Hirschsprung disease-ganglioneuroblastoma syndrome
Findings
No curated finding names Hirschsprung disease-ganglioneuroblastoma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.
Definition from the Mondo Disease Ontology (MONDO:0013082), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pupil morphologyHPOHP:0000615
- Very frequent (80% to 99% of cases)
- Aganglionic megacolonHPOHP:0002251
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPOHP:0011675
- Very frequent (80% to 99% of cases)
- GanglioneuroblastomaHPOHP:0006747
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- Neoplasm of the nervous systemHPOHP:0004375
- Very frequent (80% to 99% of cases)