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Start free with EleplanHirschsprung disease
ORPHA:388Disease
Also called Aganglionic megacolon · Colonic aganglionosis · Congenital intestinal aganglionosis · HSCR
What it is
A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Key facts
- Prevalence
- 1-5 / 10 000
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
6Common30–79%
5These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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