Hirschsprung's disease

Common Name(s)

Hirschsprung's disease

Hirschsprung's disease is a condition that is present at birth due to the absence of nerves in the colon. Without these nerves, an affected individual will have difficulty passing stool. The most obvious symptom of this disease is when a newborn baby does not have a bowel movement within the first few days of life. However, in less severe cases, an affected individual may still have bowel movements and the disease may not be diagnosed until later when the child has difficulty becoming toilet trained or has difficulty controlling his or her bowel movements. Other symptoms of Hirschsprung's disease in newborns include vomiting, an enlarged abdomen, constipation, gas, or diarrhea. In older children, the symptoms may include chronic constipation, gas, an enlarged abdomen, fatigue, and failure to gain weight.

Hirschsprung's disease may be caused by a genetic mutation, although the exact inheritance is not well known. A major complication associated with this disease is the development of enterocolitis later in life, which is a condition caused by inflammation of the colon and can be life threatening. Factors that increase the risk of a newborn having Hirschsprung's disease include having a sibling with the disease, male gender, or certain genetic conditions such as Down syndrome (trisomy 21). Hirschsprung's disease is treated with surgery to remove the affected portion of the colon. After surgery, it is important to watch for signs that may indicate complications, such as vomiting, bleeding from the rectum, diarrhea, fever, or an enlarged abdomen. Support groups are available as a resource for more information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hirschsprung's disease" for support, advocacy or research.

Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

Last Updated: 28 Feb 2015

View Details
Mowat Wilson Support

We are a support group and website where families can share information about Mowat-Wilson Syndrome. Our website includes support group information, a forum, photos and profiles of children with MWS and parent survey pages. We want to help inform the public about this rare condition and to help those affected by it not feel so alone by giving them a place to exchange information and experiences with others in the same situation.

Last Updated: 6 Mar 2014

View Details
Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

Last Updated: 8 Nov 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hirschsprung's disease" for support, advocacy or research.

Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

AGMD is a nonprofit international organization which serves as an integral educational resource concerning digestive motility diseases and disorders. It also functions as an important information base for members of the medical and scientific communities. In addition, it provides a forum for patients suffering from digestive motility diseases and disorders as well as their families and members of the medical community.

http://www.agmd-gimotility.org

Last Updated: 28 Feb 2015

View Details
Mowat Wilson Support

We are a support group and website where families can share information about Mowat-Wilson Syndrome. Our website includes support group information, a forum, photos and profiles of children with MWS and parent survey pages. We want to help inform the public about this rare condition and to help those affected by it not feel so alone by giving them a place to exchange information and experiences with others in the same situation.

http://www.mowatwilson.org

Last Updated: 6 Mar 2014

View Details
Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

http://www.PullthruNetwork.org

Last Updated: 8 Nov 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hirschsprung's disease" returned 222 free, full-text research articles on human participants. First 3 results:

Atresia of the Colon Associated with Hirschsprung's Disease.
 

Author(s): Diana N Diaz, Kambiz Eftekhari

Journal: Arch Iran Med. 2015 May;18(5):322-3.

 

Atresia of the colon is a rare anomaly with an incidence of between 1:20,000 and 1:66,000 live births being reported. Hirschsprung's disease association with Colonic atresia is usually diagnosed after several failures of intestinal anastomoses. We herein report one of the first patients ...

Last Updated: 11 May 2015

Go To URL
Hirschsprung's disease in twin to twin transfusion syndrome: a case report.
 

Author(s): Hye Won Park, Min Jeng Cho, Wook Youn Kim, Byung Ok Kwak, Min Hee Kim

Journal: World J. Gastroenterol.. 2014 Dec;20(46):17666-9.

 

Twin to twin transfusion syndrome (TTTS) is caused by aberrant vascular connections between infant twins and results in high morbidity and mortality in the perinatal period. In donor infants with TTTS and symptoms of intestinal obstruction, small-bowel lesions have been reported in ...

Last Updated: 17 Dec 2014

Go To URL
Analysis of a parent-initiated social media campaign for Hirschsprung's disease.
 

Author(s): Kristy Wittmeier, Cindy Holland, Kendall Hobbs-Murison, Elizabeth Crawford, Chad Beauchamp, Brodie Milne, Melanie Morris, Richard Keijzer

Journal:

 

Social media can be particularly useful for patients or families affected by rare conditions by allowing individuals to form online communities across the world.

Last Updated: 16 Dec 2014

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hirschsprung's disease" returned 15 free, full-text review articles on human participants. First 3 results:

Laparoscopic assistance for primary transanal pull-through in Hirschsprung's disease: a systematic review and meta-analysis.
 

Author(s): David Thomson, Benjamin Allin, Anna-May Long, Tim Bradnock, Gregor Walker, Marian Knight

Journal:

 

To compare outcomes following totally transanal endorectal pull-through (TTERPT) versus pull-through with any form of laparoscopic assistance (LAPT) for infants with uncomplicated Hirschsprung's disease.

Last Updated: 25 Mar 2015

Go To URL
Advances in molecular genetics of Hirschsprung's disease.
 

Author(s): Zhi-Wen Pan, Ji-Cheng Li

Journal: Anat Rec (Hoboken). 2012 Oct;295(10):1628-38.

 

Hirschsprung's disease (HSCR) is a developmental disorder of the enteric nervous system, which occurs due to the failure of neural crest cells to fully colonize the gut during embryonic development. It is characterized by the absence of the enteric ganglia in a variable length of ...

Last Updated: 13 Sep 2012

Go To URL
Genetic interactions and modifier genes in Hirschsprung's disease.
 

Author(s): Adam S Wallace, Richard B Anderson

Journal: World J. Gastroenterol.. 2011 Dec;17(45):4937-44.

 

Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype ...

Last Updated: 16 Dec 2011

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 17 Dec 2015

Go to URL
Hirschsprung Disease Genetic Study
 

Status: Recruiting

Condition Summary: Hirschsprung Disease

 

Last Updated: 22 Oct 2015

Go to URL
Genetic Mosaicism in Hirschsprung's Disease
 

Status: Recruiting

Condition Summary: Hirschsprung Disease

 

Last Updated: 30 Nov 2015

Go to URL