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.

Also known as: Hirschsprung disease ganglioneuroblastoma, neuroblastoma with Hirschsprung disease

3 clinical trials for this condition and its sub-types, 0 tagged with Hirschsprung disease-ganglioneuroblastoma syndrome itself.