Living with Hirschsprung disease-ganglioneuroblastoma syndrome
A rare genetic condition with a bowel problem present from birth and nerve tissue tumors, sometimes with breathing and autonomic problems.
Understanding Hirschsprung disease-ganglioneuroblastoma syndrome
The large intestine (colon) fully or partly lacks nerve cells, which is called aganglionosis. People also have tumors made of nerve cells, often in several places. Sometimes breathing, heart, and eye symptoms occur, which point to problems with the autonomic nervous system. This is the system that controls automatic body functions. It is seen at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged colon lacking nerve cells (aganglionic megacolon)
- Tumors of the nervous system
- Abnormal heart rhythm (arrhythmia)
- Unusual pupils
- Excessive sweating
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Children's Neuroblastoma Cancer Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Children's Neuroblastoma Cancer Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Neuroblastoma Cancer Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. GARD doesn't list a specific gene or inheritance pattern.
Also known as: hirschsprung disease, ganglioneuroblastoma syndrome; neuroblastoma with hirschsprung disease
Patient organizations
- Children's Neuroblastoma Cancer FoundationHirschsprung disease-ganglioneuroblastoma syndrome · United States
- Pull-thru NetworkHirschsprung disease-ganglioneuroblastoma syndrome · United States
- REACHHirschsprung disease-ganglioneuroblastoma syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Hirschsprung disease-ganglioneuroblastoma syndrome.
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