Rare diseases · Sign or symptom
Aganglionic megacolon
Enlarged colon lacking nerve cells
HP:0002251
What it means
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract.
Rare diseases that can present with this57
Very common80–99%
10- Dermotrichic syndrome
- Goldberg-Shprintzen megacolon syndrome
- Haddad syndrome
- Hirschsprung disease
- Hirschsprung disease-deafness-polydactyly syndrome
- Hirschsprung disease-ganglioneuroblastoma syndrome
- Hirschsprung disease-type D brachydactyly syndrome
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Ring chromosome 10 syndrome
- Waardenburg-Shah syndrome
Common30–79%
9The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hirschsprung disease · Hirschsprung megacolon
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.