How rare is Hirschsprung disease?

Hirschsprung disease is classified as common. The estimated prevalence is approximately 1-5 in 10,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Hirschsprung disease diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Hirschsprung disease?

Information about treatment options and management approaches is currently limited for this condition.

What complications can arise from Hirschsprung disease?

Hirschsprung disease can lead to serious complications if not treated. One major risk is intestinal blockage, which can cause pain and swelling in the abdomen. Additionally, some children may experience infections or severe constipation due to the lack of nerve cells in the colon.

How does Hirschsprung disease affect daily life for my child?

Children with Hirschsprung disease may face challenges with bowel movements and may need special diets or medications to help manage their condition. Parents often have to monitor their child's bowel habits closely. With proper treatment and management, many children can lead active, healthy lives.

What is the long-term outlook for someone with Hirschsprung disease?

The long-term outlook for individuals with Hirschsprung disease can vary based on the extent of the affected bowel. Many children who receive timely treatment can have a good quality of life. However, some may continue to experience bowel issues as they grow older.

Should we see a specialist for Hirschsprung disease?

Yes, it is important to see a specialist for Hirschsprung disease. Pediatric gastroenterologists or surgeons who have experience with this condition can provide the best care. They can help with diagnosis, treatment options, and ongoing management for your child.

Kisho

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Hirschsprung disease (HSCR) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Hirschsprung disease

MONDO:0018309

Also known as:HSCRHirschsprung disease susceptibilityHirschsprung's disease

Find Clinical TrialsTrials

Overview

Hirschsprung disease (HSCR) is a 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.

TreatmentsNo approved treatments · 2 in pipeline

Clinical Trials22 registered · 10 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Aganglionic megacolon, Intestinal obstruction, Functional abnormality of the gastrointestinal tract, and Nausea and vomiting and others; and common findings: Weight loss, Abdominal distention, Feeding difficulties, and Bilious emesis and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	8	Diarrhea, Intestinal obstruction, Functional abnormality of the gastrointestinal tract

Diagnosis

Biomarker and diagnostic research for Hirschsprung disease has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Hirschsprung disease. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Hirschsprung disease, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Hirschsprung disease. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Phenotype severity distribution: 6 very common features, 5 common features.

Estimated prevalence: 1-5 in 10,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

22 clinical trials registered, 10 recruiting. Interventions under study include other interventions, procedural interventions, medical devices, and drug therapy. Pipeline includes 2 PHASE3, 7 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT05450991](https://clinicaltrials.gov/study/NCT05450991)

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:388

GARD

Genetic and Rare Diseases Info Center

GARD:6660

Questions for Your Care Team

→Are any of the 22 active clinical trials a good fit for my situation?
→What is the current development status of glial cell derived neurotrophic factor and sodium butyrate, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Hirschsprung disease

Hirschsprung disease (HSCR) is a congenital disorder that affects the large intestine. It occurs when a part of the colon is missing the nerve cells needed to move stool through the gut, which can lead to signs of intestinal blockage. This missing nerve cell segment is known as the aganglionic segment and can vary in length among people with the condition. Because Hirschsprung disease is present from birth, early detection is important. The extent of the affected bowel varies, and this variability can influence the presentation of symptoms. While the core feature is the absence of nerve cells in part of the colon, more detailed information on symptoms, diagnosis, and management is available through specialized sources.

Information about symptoms is currently limited for this condition.

Information about causes, genetics, and risk factors is currently limited for this condition.

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Research Type	Count	% of Total
Laboratory research	43	25%
Clinical study results	37	21%
Research summaries	32	18%
Disease patterns and progression	27	16%
Testing and diagnosis research	18	10%
Patient case studies	9	5%
New treatment approaches	5	3%
Other research	3	2%

Kisho

Hirschsprung disease

Overview

Clinical Presentation

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Explore clinical features

Clinical Trials

Recent Publications

Latest News & Developments

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.

Operative Strategies for Hirschsprung Disease Presenting in Adults: A Systematic Review.

Indirect Evidence for the Volume-Outcome Relationship in Corrective Surgery for Hirschsprung Disease: Insights from Adult Colorectal Surgery.

Hirschsprung disease

Overview

Clinical Presentation

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Hirschsprung disease?

What are the symptoms of Hirschsprung disease?

What causes Hirschsprung disease?

How rare is Hirschsprung disease?

How is Hirschsprung disease diagnosed?

Are there treatments for Hirschsprung disease?

What complications can arise from Hirschsprung disease?

How does Hirschsprung disease affect daily life for my child?

What is the long-term outlook for someone with Hirschsprung disease?

Should we see a specialist for Hirschsprung disease?

Explore clinical features

Clinical Trials

Recent Publications

Latest News & Developments

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.

Operative Strategies for Hirschsprung Disease Presenting in Adults: A Systematic Review.

Indirect Evidence for the Volume-Outcome Relationship in Corrective Surgery for Hirschsprung Disease: Insights from Adult Colorectal Surgery.