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.
MONDO:0002254
syndromic disease
is_a
MONDO:0021189
intestinal motility disease
is_a
Hirschsprung disease ganglioneuroblastoma
related