National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hirschsprung disease

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Other Names:
HSCR; Hirschsprung disease 1; HSCR 1; HSCR; Hirschsprung disease 1; HSCR 1; Aganglionic megacolon; Hirschsprung disease type 1 See More
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Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. Other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, defined by the region of the intestine lacking nerve cells (aganglionic segments).[1] HSCR is considered a neurocristopathy, a disorder of cells and tissues derived from the neural crest, (a group of embryonic cells of the neural tube that forms several structures, of the body). HSCR may occur as an isolated finding or as part of a another disorder. Isolated HSCR is associated with mutations in several genes. Treatment is with surgery, removing the aganglionic intestinal segment.[2]  
Last updated: 9/4/2017
Signs and symptoms are due to the lack of the nerves in the intestine which trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease.[1] According to the length of the intestinal segment that lack nerve cells (aganglionic segment), the disease can be divided in short-segment disease (80% of the cases) and long-segment disease (15%-20% of the cases) when the disease extends to the sigmoid colon. In about 5%, aganglionosis affects the entire large intestine (total colonic aganglionosis). Rarely, the aganglionosis extends into the small bowel or even further to involve the entire bowel (total intestinal aganglionosis).[2][1]

Infants with HSCR frequently present in the newborn period with failure to pass meconium (the name given to the first feces) within the first 48 hours of life. Other symptoms in infants include constipation, vomiting, abdominal pain or distention, and diarrhea. However, because the initial diagnosis of HSCR may be delayed until late childhood or adulthood, HSCR should be considered in anyone with lifelong severe constipation. People with this disease have an increased chance to develop infections or a hole in the wall of the bowels (intestinal perforation).[2][1]
Last updated: 9/4/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 20 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Constipation 0002019
Intestinal obstruction
Bowel obstruction
Intestinal blockage
[ more ] 		0005214
Nausea and vomiting 0002017
30%-79% of people have these symptoms
Weight loss 0001824
5%-29% of people have these symptoms
Adducted thumb
Inward turned thumb
0001181
Diarrhea
Watery stool
0002014
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Intestinal polyposis 0200008
Neoplasm of the thyroid gland 0100031
Sensorineural hearing impairment 0000407
Sepsis
Infection in blood stream
0100806
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Percent of people who have these symptoms is not available through HPO
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] 		0003270
Abnormality of enteric ganglion morphology 0004362
Autosomal dominant inheritance 0000006
Enterocolitis 0004387
Vomiting
Throwing up
0002013
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Last updated: 11/1/2020
There are a number of different causes of HSCR. For example, HSCR may occur as:[1][2]
  • Part of a syndrome
  • In association with a chromosome anomaly (such as trisomy 21 or Down syndrome) 
  • Along with other birth defects but not as a part of a known syndrome
  • As an isolated condition
Isolated HSCR can result from mutations in one of several genes, including the RET (most common), EDNRB, and EDN3 genes. However, the genetics of this condition are complex and are not yet completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals.[2]

To learn more about the genes associated with isolated HSCR  you can visit GeneReviews.
Last updated: 9/4/2017
HSCR usually occurs by itself without other symptoms and is called "isolated HSCR". Isolated HSCR has multifactorial inheritance, which means that multiple genes interact with environmental factors to cause the condition. When someone has a child with isolated HSCR, the overall risk to have another child with the condition is 4%. There are some factors that can change the risk. For example, the risk is higher if the sibling has long-segment disease rather than short-segment disease. Also, males are more likely than females to develop HSCR. Another factor is if the siblings have the same or different parents.[2] Click here for more information on genes associated with isolated HSCR.

If HSCR occurs as part of a genetic syndrome, then it is inherited in a specific pattern, according to the specific syndrome. For example, the inheritance may be autosomal recessive, autosomal dominant, or X-linked recessive, depending on the exact cause of the syndrome.[2] 

In about 12% of the cases HSCR is part of a chromosome anomaly, such as Down syndrome.

Individuals who are interested in learning about their personal risks or risks to family members should speak with their doctors or a genetics professional.
Last updated: 9/4/2017

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The treatment is a surgery called a "pull-through" which removes the intestinal aganglionic segment and joins the bowel to the anus. In some cases, the lack of movement of the intestine may remain after the pull-through procedure. Infection can also be a complication after surgery. In cases of large intestinal aganglionosis, intestinal transplantation might be the best treatment.[2] 
Last updated: 9/4/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes gastrointestinal malformations such as anorectal atresia, chronic intestinal pseudoobstruction, meconium ileus (see these terms), anorectal stenosis and pelvic tumors.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Hirschsprung disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Chakravarti Research Laboratory at New York University School of Medicine is conducting research testing on Hirschsprung Disease. You can contact the Chakravarti Research Laboratory directly to learn more.

    Chakravarti Research Laboratory
    Contact: Magan Trottier, MSc
    New York University School of Medicine
    New York, NY 10016
    United States,
    Phone: +1-212-263-8069
    Email: hirschsprung@nyumc.org
    Email: magan.trottier@nyumc.org 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • MedlinePlus Genetics contains information on Hirschsprung disease. This website is maintained by the National Library of Medicine.
  • The Merck Manual Online Medical Library provides information on digestive tract defects. Click on Merck Manual to view the information page.
  • The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hirschsprung disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My youngest son was born with Hirschsprung's disease. I am now with a different partner and just found out that I am expecting another child. I am wondering about how this disease is passed on. I understand that some children have no family history yet are still afflicted. Is there a genetic component? Is it passed through the mother or the father? And finally, is this disorder more common in males? See answer

  • How can I learn more about the pull-through operation for Hirschsprung disease? I am considering this procedure for my son. See answer


  1. Hirschsprung disease. Genetics Home Reference (GHR). August 2012; http://ghr.nlm.nih.gov/condition/hirschsprung-disease.
  2. Parisi MA. Hirschsprung Disease Overview. GeneReviews. 2015; http://www.ncbi.nlm.nih.gov/books/NBK1439/.