Hirschsprung disease

Symptoms

What are the main symptoms of Hirschsprung Disease?

Before surgery, people with Hirschsprung disease may be unable to pass stool (fecal matter), including the meconium (the baby's first stool, which is a dark green color). They can also have liquid stool (diarrhea) and green vomit. Later, the baby may grow slowly, gain less weight than other children the same age, and have a swollen belly.

After Hirschsprung disease is treated, there may be constipation, inability to pass stool, or inability to control stool so it is released unexpectedly, called incontinence.

If your infant or child has any of these symptoms please speak with your physician about making a diagnosis of Hirschsprung disease.

References
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
  • "Hirschsprung's disease" Medline Plus. 04 Dec. 2013. https://www.nlm.nih.gov/medlineplus/ency/article/001140.htm
Show More Content Like This

More Symptoms Content

Are there earlier onset, later onset, or variant forms of Hirschsprung Disease?

What health problems should I look for in Hirschsprung Disease?

Are there any other diseases that look a lot like Hirschsprung disease?

Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of Hirschsprung Disease?

Is there variable expression or incomplete penetrance in Hirschsprung disease?

Are there earlier onset, later onset, or variant forms of Hirschsprung Disease?

There are two forms of Hirschsprung disease: long-segment and short-segment. About 80% of Hirschsprung disease cases are short-segment and only affect a small part of the colon that connects to the rectum. Long-segment Hirschsprung disease can have worse symptoms because it can affect most of the colon. The colon, or large intestine, is the last part of the digestive system that transports digested food and liquid from the small intestine to the rectum. About 85-90% of people with Hirschsprung disease are diagnosed in infancy, but it can develop later in childhood less frequently in adulthood. To learn more about the different forms of Hirschsprung disease speak with your physician about symptoms and treatments for Hirschsprung disease affecting part or all of the colon.

References
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
  • "Hirschsprung Disease" Genetics Home Reference. Aug. 2012. https://ghr.nlm.nih.gov/condition/hirschsprung-disease#genes
What health problems should I look for in Hirschsprung Disease?

Before surgery, infants and children with Hirschsprung disease may be unable to pass stool (fecal matter), including the meconium (the baby's first stool, which is a dark green color). They can also have liquid stool (diarrhea) and green vomit. Later, the infant or child may grow slowly, gain less weight than other children thier age, and have a swollen belly. After surgery, watch for constipation (being unable to pass stool) or inability to control stool so it is released unexpectedly, called incontinence.

If you or your child are experiencing any of these symptoms speak with your physician or a gastroenterologist about these symptoms and whether this may be due to Hirschsprung disease.

References
  • "Hirschsprung's disease" Medline Plus. 04 Dec. 2013. https://www.nlm.nih.gov/medlineplus/ency/article/001140.htm
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
Are there any other diseases that look a lot like Hirschsprung disease?

Hirschsprung disease can be confused with neuronal intestinal dysplasia, chronic intestinal pseudoobstruction, duodenal atresia, duodenal stenosis, Crohn's disease, diverticulitis, or irritable bowel. All of these diseases involve abnormalities of the colon similar to Hirschsprung disease.

In some cases Hirschsprung disease can also happen as part of a genetic syndrome. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. When Hirschsprung disease occurs as part of a syndrome this is called "syndromic" Hirschsprung disease. Some syndromes known to cause Hirschsprung disease are Waardenburg syndrome, Mowat-Wilson syndrome, Down Syndrome or congenital central hypoventilation syndrome.

If you are concerned that you or your child may have Hirschsprung disease has part of a syndrome ask your doctor for a referral to a genetic counselor or locate a genetic counselor near you using the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

References
  • "Hirschsprung Disease" Genetics Home Reference. Aug. 2012. https://ghr.nlm.nih.gov/condition/hirschsprung-disease#genes
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
Is there one or two characteristic "odd" or "unusual" symptom or clinical feature of Hirschsprung Disease?

One of the defining features of Hirschsprung disease is vomiting bile, which is a green substance that helps break down fats and is made in the gall bladder. The gall bladder is a small organ that stores bile after it has been made by the liver and before it is released into the intestines. Vomiting bile is a symptom of other diseases as well, so the doctor will ask about other symptoms to diagnose Hirschsprung disease. If you or your child are vomiting bile contact your physician.

References
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
  • Wesson, David. "Congenital aganglionic megacolon (Hirschsprung disease)" UpToDate. May 2016. Web. 14 Jun. 2016. http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease?source=search_result&search=Hirschsprung%E2%80%99s+Disease&selectedTitle=1~66
Is there variable expression or incomplete penetrance in Hirschsprung disease?

Hirschsprung disease is characterized by both incomplete penetrance and variable expression. Incomplete penetrance means that some people with a gene change or mutation associated with Hirschsprung disease (HSCR) do not have HSCR. Variable expression means that people with a gene change or mutation may have different symptoms than others with the same change or mutation. Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body. If you have further questions about variable expression and incomplete penetrance in Hirschsprung disease speak with your physican or a genetic counselor. To locate a genetic counselor near you use the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

References
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
  • "Hirschsprung Disease" Genetics Home Reference. Aug. 2012. http://ghr.nlm.nih.gov/condition/hirschsprung-disease

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me