Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Hirschsprung disease

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Aganglionic megacolon
    • Colonic aganglionosis
    • Congenital intestinal aganglionosis
    • HSCR
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Multigenic/multifactorial or Not applicable 
  • Age of onset: Childhood, Infancy, Neonatal
  • ICD-10: Q43.1
  • ICD-11: LB16.1
  • OMIM: 142623  600155  600156  606874  606875  608462  611644  613711  613712
  • UMLS: C0019569
  • MeSH: D006627
  • GARD: 6660
  • MedDRA: 10010539

Detailed information

General public


Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.