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Disease Profile

Hirschsprung disease

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-5 / 10 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

HSCR; Hirschsprung disease 1; HSCR 1;


Congenital and Genetic Diseases; Digestive Diseases


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]


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]

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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

Aganglionic megacolon
Enlarged colon lacking nerve cells
Intestinal obstruction
Bowel obstruction
Intestinal blockage

[ more ]

Nausea and vomiting
30%-79% of people have these symptoms
Weight loss
5%-29% of people have these symptoms
Adducted thumb
Inward turned thumb
Watery stool
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy

[ more ]

Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific

[ more ]

Intestinal polyposis
Neoplasm of the thyroid gland
Sensorineural hearing impairment
Infection in blood stream
Short stature
Decreased body height
Small stature

[ more ]

Percent of people who have these symptoms is not available through HPO
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating

[ more ]

Abnormality of enteric ganglion morphology
Autosomal dominant inheritance
Throwing up


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.


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] 


    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 Providing General Support

      Learn more

      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.


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

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