Living with Aganglionic megacolon
A condition present at birth in which nerves are missing from part of the intestine, causing severe constipation or blockage.
Understanding Aganglionic megacolon
The nerves in the intestine (enteric nerves) don't form properly before birth. Without them, stool can't be pushed through, causing severe constipation or a blockage. It is usually found in the first two months of life, though milder cases may be found later in childhood. Short-segment disease affects only the last part of the colon and is the most common type. Long-segment disease affects most of the colon and is more severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe constipation
- Swollen belly
- Vomiting
- Belly pain
- Trouble feeding
- Delayed first stool in a newborn (meconium)
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 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
Association of Gastrointestinal Motility Disorders may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Association of Gastrointestinal Motility Disorders
- 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 Association of Gastrointestinal Motility Disorders 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
GARD says changes in genes cause this condition. It lists both autosomal dominant and autosomal recessive inheritance, but doesn't name a gene.
Also known as: aganglionosis; colonic aganglionosis; congenital aganglionic megacolon; congenital intestinal aganglionosis; congenital megacolon; enlarged colon lacking nerve cells
Patient organizations
- Association of Gastrointestinal Motility DisordersAganglionic megacolon · United States
- Pull-thru NetworkAganglionic megacolon · United States
- REACHAganglionic megacolon · United States
You are more than your diagnosis
Perspectives from people navigating life with Aganglionic megacolon.
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