Hirschsprung Disease

What I need to know about
 

Hirschsprung Disease 

U.S. Department 

of Health and 

Human Services 

NATIONAL INSTITUTES OF HEALTH 

National Digestive Diseases 

Information Clearinghouse 

 

What I need to know about 

Hirschsprung Disease 

U.S. Department 


of Health and
 

Human Services
 

NATIONAL INSTITUTES OF HEALTH 

National Digestive Diseases 

Information Clearinghouse 
Contents 

What is Hirschsprung disease (HD)?.................... 1 

What are the large intestine, colon, rectum, 

and anus? ................................................................. 2 

Why does HD cause constipation?........................ 2 


What causes HD?.................................................... 3
 

What are the symptoms of HD? ............................ 4 


How is HD diagnosed?........................................... 6 


How is HD treated? ................................................ 7 


What will my child’s life be like 


after surgery?......................................................... 10 


If I have more children, will they also
 

have HD? ............................................................... 13 


Points to Remember ............................................. 14 


Hope through Research ....................................... 15
 

Pronunciation Guide............................................. 16
 

For More Information .......................................... 17 


Acknowledgments ................................................. 18
 
 

 

 

 

 

 

 

 

 

 

What is Hirschsprung disease (HD)? 

Hirschsprung* disease (HD) is a disease of the large 

intestine that causes severe constipation or intestinal 

obstruction. Constipation means stool moves 

through the intestines slower than usual. Bowel 

movements occur less often than normal and stools 

are difficult to pass. Some children with HD can’t 

pass stool at all, which can result in the complete 

blockage of the intestines, a condition called 

intestinal obstruction. People with HD are born with 

it and are usually diagnosed when they are infants. 

Less severe cases are sometimes diagnosed when a 

child is older. An HD diagnosis in an adult is rare. 

Liver 

Small 

intestine 

Stomach 

Anus 

Large 

intestine 

Esophagus 

Rectum 

Colon 

(shaded) 

HD is a disease of the 

large intestine that causes 

severe constipation or 

intestinal obstruction. 

*See page 16 for tips on how to say the words in 

bold type. 

1 
 

 

 

What are the large intestine, colon, 

rectum, and anus? 

The large intestine, which includes the colon and 

rectum, is the last part of the digestive tract. The 

large intestine’s main job is to absorb water and 

hold stool. The rectum connects the colon to the 

anus. Stool passes out of the body through the 

anus. At birth, the large intestine is about 2 feet 

long. An adult’s large intestine is about 5 feet long. 

Why does HD cause constipation? 

People with HD have constipation because 

they lack nerve cells in a part or all of the large 

intestine. The nerve cells signal muscles in the 

large intestine to push stool toward the anus. 

Without a signal to push stool along, stool will 

remain in the large intestine. 

Nerve 

cells 

Healthy large 

intestine. Nerve 

cells are found 

throughout the large 

intestine. 

Nerve 

cells 

Short-segment HD. 

Nerve cells are 

missing from the 

last segment of the 

large intestine. 

Nerve 

cells 

Long-segment HD. 

Nerve cells are missing 

from most or all of 

the large intestine and 

sometimes the last part 

of the small intestine. 

2 
 

 

 

 

 

 

 

 

 

 

 

 

 

How severe HD is depends on how much of the 

large intestine is affected. Short-segment HD 

means only the last part of the large intestine lacks 

nerve cells. Long-segment HD means most or all 

of the large intestine, and sometimes the last part 

of the small intestine, lacks nerve cells. 

In a person with HD, stool moves through the 

large intestine until it reaches the part lacking 

nerve cells. At that point, the stool moves slowly or 

stops, causing an intestinal obstruction. 

What causes HD? 

Before birth, a child’s nerve cells normally grow 

along the intestines in the direction of the anus. 

With HD, the nerve cells stop growing too soon. 

Why the nerve cells stop growing is unclear. Some 

HD is inherited, meaning it is passed from parent 

to child through genes. HD is not caused by 

anything a mother did while pregnant. 

3 
 

 

 

 

 

 

 

 

 

 

 

 

 

What are the symptoms of HD? 

The main symptoms of HD are constipation or 

intestinal obstruction, usually appearing shortly 

after birth. Constipation in infants and children is 

common and usually comes and goes, but if your 

child has had ongoing constipation since birth, HD 

may be the problem. 

Symptoms in Newborns 

Newborns with HD almost always fail to have their 

first bowel movement within 48 hours after birth. 

Other symptoms include 

●	 green or brown vomit 

●	 explosive stools after a doctor inserts a finger 

into the rectum 

●	 swelling of the belly, also known as the abdomen 

●	 lots of gas 

●	 bloody diarrhea 

4 
 

 

 

 

 

 

 

 

 

Symptoms in Toddlers and Older Children 

Symptoms of HD in toddlers and older children 

include 

●	 not being able to pass stools without laxatives or 

enemas. A laxative is medicine that loosens stool 

and increases bowel movements. An enema is 

performed by flushing water, or sometimes a 

mild soap solution, into the anus using a special 

wash bottle. 

●	 swelling of the abdomen. 

●	 lots of gas. 

●	 bloody diarrhea. 

●	 slow growth or development. 

●	 lack of energy because of a shortage of red blood 

cells, called anemia. 

People with anemia tire easily because 

of a shortage of red blood cells. 

5 
 

 

 

 

 

 

 

 

How is HD diagnosed? 

HD is diagnosed based on symptoms and test 

results. 

A doctor will perform a physical exam and ask 

questions about your child’s bowel movements. 

HD is much less likely if parents can identify a time 

when their child’s bowel habits were normal. 

If HD is suspected, the doctor will do one or more 

tests. 

X rays 

An x ray is a black-and-white picture of the inside 

of the body. To make the large intestine show up 

better, the doctor may fill it with barium liquid. 

Barium liquid is inserted into the large intestine 

through the anus. 

If HD is the problem, the last segment of the large 

intestine will look narrower than normal. Just 

before this narrow segment, the intestine will look 

bulged. The bulging is caused by blocked stool 

stretching the intestine. 

Manometry 

During manometry, the doctor inflates a small 

balloon inside the rectum. Normally, the rectal 

muscles will relax. If the muscles don’t relax, HD 

may be the problem. This test is most often done 

in older children and adults. 

6 
 

 

 

 

 

 

Biopsy 

Biopsy is the most accurate test for HD. The 

doctor removes a tiny piece of the large intestine 

and looks at it with a microscope. If nerve cells are 

missing, HD is the problem. 

How is HD treated? 

Pull-through Procedure 

HD is treated with surgery called a pull-through 

procedure. A surgeon removes the segment of the 

large intestine lacking nerve cells and connects the 

healthy segment to the anus. The pull-through 


procedure is usually done soon after diagnosis.
 

Pull-through Procedure 

Healthy 

segment 

Diseased 

segment 

(without 

nerve 

cells) Rectum 

Anus 

Before pullthrough surgery: 

The diseased 

segment doesn’t 

push stool. 

Step 1: The 

diseased segment 

is removed. 

Step 2: The 

healthy segment 

is attached to 

the remaining 

rectum. 

7 
 

 

 

 

 

 

 

 

Ostomy surgery 

An ostomy allows stool to leave the body through 

an opening in the abdomen. Although most 

children with HD do not need an ostomy, a child 

who has been very sick from HD may need an 

ostomy to get better before the pull-through 

procedure. 

For ostomy surgery, the surgeon first takes out the 

diseased segment of the large intestine. The end 

of the healthy intestine is moved to an opening 

in the abdomen where a stoma is created. A 

stoma is created by rolling the intestine’s end back 

on itself, like a shirt cuff, and stitching it to the 

abdominal wall. An ostomy pouch is attached to 

the stoma and worn outside the body to collect 

stool. The pouch will need to be emptied several 

times each day. 

Stoma 

Abdomen 

8 
 

 

 

 

 

If the surgeon removes the entire large intestine 

and connects the small intestine to the stoma, 

the surgery is called an ileostomy. If the surgeon 

leaves part of the large intestine and connects it to 

the stoma, the surgery is called a colostomy. 

Later, during the pull-through procedure, the 

surgeon removes the stoma and closes the 

abdomen with stitches. 

Ostomy Surgery 

Diseased 

segment 

Step 1: The diseased 

segment is removed. 

Stoma 

Step 2: The healthy 

intestine is moved to an 

opening in the abdomen 

where a stoma is created. 

9 
What will my child’s life be like 

after surgery? 

After Ostomy Surgery 

Infants will feel better after ostomy surgery because 

they will be able to easily pass gas and stool. 

Older children will feel better, too, but they must 

adjust to living with an ostomy. They will need to 

learn how to take care of the stoma and how to 

change the ostomy pouch. With a few changes, 

children with ostomies can lead normal lives. 

However, they may worry about being different 

from their friends. A special nurse called an 

ostomy nurse can answer questions and show how 

to care for an ostomy. 

An ostomy nurse 

can answer 

questions and 

show how to care 

for an ostomy. 

10
 
 

 

 

 

 

 

 

 

 

 

 

After the Pull-through Procedure 

Most children pass stool normally after the pullthrough procedure. Children may have diarrhea 

for awhile, and infants and toddlers may develop 

diaper rash, which is treatable with diaper creams. 

Over time, stool will become more solid and the 

child will go to the bathroom less often. Toilet 

training may take longer. Children often must 

learn how to use the muscles of the anus after 

surgery. Some children may leak stool for awhile, 

but most will learn to have better bowel control as 

they get older. 

Diet and Nutrition 

After the pull-through procedure, children with 

long-segment HD need to drink more fluids. Now 

that the large intestine is shorter, or entirely gone, 

it is less able to absorb fluids the body needs. 

Drinking more helps make up for the loss. 

After the pull-through procedure, 

children with long-segment HD 

need to drink more fluids. 

11 
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Some infants may need tube feedings for awhile. 

A feeding tube allows infant formula or milk to 

be pumped directly into the stomach or small 

intestine. The feeding tube is passed through the 

nose or through an incision in the abdomen. 

Eating high-fiber foods can help reduce constipation 

and diarrhea. Fiber helps form stool, making 

bowel movements easier. High-fiber foods include 

whole-grain breads, vegetables, and fruits. Some 

children may need laxatives to treat ongoing 

constipation. Consult a doctor before giving a 

laxative to your child. 

Infection 

People with HD can suffer from an infection of 

the intestines, called enterocolitis, before or after 

surgery. Symptoms include 

● fever 

● swollen abdomen 

● vomiting 

● diarrhea 

● bleeding from the rectum 

● lack of energy 

Call the doctor right away if your child shows any 

of these signs. 

12 
 

 

 

 

 

 

 

 

 

Children with enterocolitis need to go to the 

hospital. An intravenous (IV) tube is inserted 

into a vein to give fluids and antibiotics. The 

large intestine is rinsed regularly with a mild 

saltwater solution until all stool has been removed. 

The solution may also contain antibiotics to kill 

bacteria. A temporary ostomy may be needed to 

help the intestine heal. 

Sometimes infection is a sign of a problem with 

the pull-through procedure. More surgery may be 

needed to correct the problem and prevent future 

infections. 

13 

If I have more children, will they also 

have HD? 

If you have a child with HD, your chance of having 

more children with HD is greater. Talk with your 

doctor about the risk. 
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Points to Remember 

●	 Hirschsprung disease (HD) is a disease of the 

large intestine that causes severe constipation or 

intestinal obstruction. People with HD are born 

with it. 

●	 The large intestine, which includes the colon and 

rectum, is the last part of the digestive tract. 

●	 The cause of HD is unclear. HD is not caused 

by anything a mother did while pregnant. 

●	 The main symptoms of HD are constipation or 

intestinal obstruction, usually appearing shortly 

after birth. 

●	 Newborns with HD almost always fail to have 

their first bowel movement within 48 hours after 

birth. 

●	 HD is diagnosed based on symptoms and test 

results. 

●	 HD is treated with surgery called a pull-through 

procedure. 

●	 A child who has been very sick from HD may 

need an ostomy to get better before the pullthrough procedure. 

●	 Most children pass stool normally after the pullthrough procedure. 

14
 
 

 

 

 

 

 

 

 

 

 

 

 

 

●	 People with HD can suffer from an infection of 

the intestines, called enterocolitis, before or after 

surgery. 

●	 If you have a child with HD, your chance of 

having more children with HD is greater. 

Hope through Research 

The National Institute of Diabetes and Digestive 

and Kidney Diseases (NIDDK) conducts and 

supports basic and clinical research into many 

digestive disorders, including HD. Scientists are 

studying the genetics involved in HD to improve 

diagnosis, treatment, and genetic counseling. 

They are also looking at therapies for treating 

enterocolitis, a major complication of HD. 

Participants in clinical trials can play a more 

active role in their own health care, gain access to 

new research treatments before they are widely 

available, and help others by contributing to 

medical research. For information about current 

studies, visit www.ClinicalTrials.gov. 

15 
Pronunciation Guide 

abdomen (AB-doh-men) 

anemia (uh-NEE-mee-uh) 

anus (AY-nuhss) 

barium (BA-ree-uhm) 

biopsy (BY-op-see) 

colostomy (koh-LOSS-toh-mee) 

constipation (KON-stih-PAY-shuhn) 

diarrhea (DY-uh-REE-uh) 

enemas (EN-uh-muhz) 

enterocolitis (EN-tur-oh-koh-LY-tiss) 

Hirschsprung (HURSH-spruhng) 

ileostomy (IL-ee-OSS-tuh-mee) 

intestine (in-TESS-tin) 

intravenous (IN-truh-VEE-nuhss) 

laxatives (LAK-suh-tivz) 

manometry (muh-NOM-uh-tree) 

obstruction (ob-STRUHK-shuhn) 

ostomy (OSS-tuh-mee) 

rectum (REK-tuhm) 

stoma (STOH-muh) 

16
 
 

For More Information 

International Foundation for Functional 

Gastrointestinal Disorders 

P.O. Box 170864 

Milwaukee, WI 53217–8076 

Phone: 1–888–964–2001 or 414–964–1799 

Fax: 414–964–7176 

Email: iffgd@iffgd.org 

Internet: www.iffgd.org 

Pull-thru Network, Inc. 

2312 Savoy Street 

Hoover, AL 35226–1528 

Phone: 205–978–2930 

Email: PTNmail@charter.net 

Internet: www.pullthrunetwork.org 

United Ostomy Associations of America, Inc. 

P.O. Box 66 

Fairview, TN 37062–0066 

Phone: 1–800–826–0826 or 615–799–2990 

Fax: 615–799–5915 

Email: info@uoaa.org 

Internet: www.uoaa.org 

17 
 

 

 

 

 

 

 

 

 

Acknowledgments 

Publications produced by the Clearinghouse are 

carefully reviewed by both NIDDK scientists and 

outside experts. The National Digestive Diseases 

Information Clearinghouse would like to thank the 

following individuals for providing scientific and 

editorial review or facilitating field-testing of the 

original version of this publication: 

Paul Hyman, M.D.
 

University of Kansas Medical Center
 

Kansas City, KS
 

Jacob C. Langer, M.D.
 

The Hospital for Sick Children
 

Toronto, Ontario, Canada
 

Andrea M. Anastas
 

International Foundation for Functional 


Gastrointestinal Disorders, Inc.
 

North Andover, MA
 

Kimberly Robinstein 

Hirschsprungs & Motility Disorders Support 

Network, The Guardian Society 

Land O’ Lakes, FL 

Thank you also to the parents of children with 

Hirschsprung disease and the nurse practitioners 

who helped shape this booklet. 

18
 
 

 

 

 

 

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Information Clearinghouse 

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Phone: 1–800–891–5389
 

TTY: 1–866–569–1162 

Fax: 703–738–4929 

Email: nddic@info.niddk.nih.gov 

Internet: www.digestive.niddk.nih.gov 

The National Digestive Diseases Information Clearinghouse 

(NDDIC) is a service of the National Institute of Diabetes and 

Digestive and Kidney Diseases (NIDDK). The NIDDK is part of 

the National Institutes of Health of the U.S. Department of Health 

and Human Services. Established in 1980, the Clearinghouse 

provides information about digestive diseases to people with 

digestive disorders and to their families, health care professionals, 

and the public. The NDDIC answers inquiries, develops and 

distributes publications, and works closely with professional and 

patient organizations and Government agencies to coordinate 

resources about digestive diseases. 

This publication is not copyrighted. The Clearinghouse 

encourages users of this publication to duplicate and distribute 

as many copies as desired. 

This publication is available at www.digestive.niddk.nih.gov.

This publication may contain information about medications. 

When prepared, this publication included the most current 

information available. For updates or for questions about any 

medications, contact the U.S. Food and Drug Administration 

toll-free at 1–888–INFO–FDA (1–888–463–6332) or visit 

www.fda.gov. Consult your doctor for more information. 
U.S. DEpARTmENT OF HEALTH 

AND HUmAN SERvICES 

National Institutes of Health 

NIH Publication No. 10–4384 

February 2010