Hirschsprung disease-ganglioneuroblastoma syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Hirschsprung disease-ganglioneuroblastoma syndrome?
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Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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