Hirschsprung's disease

What causes Hirschsprung disease?

There are a number of different causes of HSCR. For example, HSCR may occur as:

  • 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.

To learn more about the genes associated with isolated HSCR you can visit GeneReviews.

Last updated on 05-01-20

Is Hirschsprung's disease inherited?

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. 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.

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 on 05-01-20

How can I learn more about the pull-through operation for Hirschsprung disease?

For a full discussion of this procedure, its risks and benefits, we recommend that you speak with your child's healthcare provider. In the meantime, you may find the following resources to be helpful.

The National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) has developed an information page on Hirschsprung disease that includes information on the pull-through operation. Click on the link below to view this information page. http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/index.aspx#7

You can find relevant journal articles on the pull-through procedure through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "Hirschsprungs[ti] pull-through" as your search term should locate articles. To narrow your search, click on the “Limits” tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

In addition, the following support organizations may be able to provide you with additional information on this topic. They may also be able to help you connect with other families with children with Hirschsprung disease.

Pull-thru Network
2312 Savoy Street
Hoover, AL 35226
Phone: 205–978–2930
E-mail: PTNmail@charter.net
Web site: http://www.pullthrunetwork.org/

International Foundation for Functional Gastrointestinal Disorders, Inc. (IFFGD)
P.O. Box 170864
Milwaukee, WI 53217–8076
Toll-free: 888-964-2001
Phone: 414-964-1799
Fax: 414-964-7176
E-mail: iffgd@iffgd.org
Web site: http://www.iffgd.org/

Last updated on 05-01-20

What is Hirschsprung disease?

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). 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.

Last updated on 05-01-20

How Hirschsprung disease might be treated?

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.

Last updated on 05-01-20

Clinical Research Resources

Research testing Hirschsprung disease

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

Last updated on 04-27-20

Where To Start

MerckManual - Digestive tract defects

The Merck Manual Online Medical Library provides information on digestive tract defects. Click on Merck Manual to view the information page.

Last updated on 04-27-20

Name: International Foundation for Functional Gastrointestinal Disorders IFFGD PO Box 170864
Milwaukee, WI, 53217, United States
Phone: +1-414-964-1799 Toll Free: 1-888-964-2001 Fax : +1-414-964-7176 Email: iffgd@iffgd.org Url: https://iffgd.org/
Name: Pull-thru Network 2312 Savoy Street
Hoover, AL, 35226 , United States
Phone: 205–978–2930 Email: PTNmail@charter.net Url: http://www.pullthrunetwork.org/

Connect with other users with Hirschsprung's disease on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App