- Hirschsprung disease definition and facts*
- What is Hirschsprung disease?
- How many newborns have Hirschsprung disease?
- Signs and symptoms of Hirschsprung disease in newborns
- Signs and symptoms in toddlers and older children
- What causes Hirschsprung disease? Is it inherited?
- How is Hirschsprung disease diagnosed?
- Surgery for Hirschsprung disease
- What can I expect as my newborn or child recovers from surgery?
Hirschsprung disease definition and facts*
Medical facts edited by Charles Patrick Davis, MD, PhD
- Hirschsprung disease is a congenital disease where the large intestine does not have nerve cells needed to expel stools (feces) normally from the body.
- About one in 5000 newborns have Hirschsprung disease.
- Symptoms in newborns include:
- No bowel movement within 48 hours after birth
- Vomiting (green or brown vomit)
- Explosive stools after a rectal digital examination
- Swollen abdomen
- Constipation and/or diarrhea (possibly bloody)
- Abdominal pain
- Intestinal obstruction
- Weight loss
- Failure to thrive
- Symptoms of Hirschsprung disease in toddlers and older children may include:
- The inability to have a bowel movement (pass stools) without enemas or suppositories.
- Swollen abdomen
- Diarrhea (often bloody)
- Slow growth
- Intellectual disability
- The cause of Hirschsprung disease is due to nerve cells that are supposed to grow along the intestine and reach the anus, but do not because they stop growing too soon.
- Some people inherit the disease, and others have mutations in several genes. In about 50% of people with Hirschsprung disease, researchers and doctors do not know what genes cause it
- Your primary care doctor will refer you to a specialist in digestive disorders called a gastroenterologist, to diagnose the condition. Diagnosis for Hirschsprung’s is based on a physical exam, medical and family history, symptoms, and tests, for example, a digital exam.
- Surgery is the treatment for this life-threatening disease (procedures include pull-through for infants and ostomy for toddles and older children.).
- After surgery, the infant or child usually feels better, and eventually will have normal bowel movements.
What is Hirschsprung disease?
Hirschsprung disease (HSCR) is a congenital (present at birth) disease of the large intestine or colon. It is one type of birth defect. People with the disease do not have the nerve cells in the intestine required to expel stools from the body normally.
How many newborns have Hirschsprung disease?
Hirschsprung disease occurs in approximately 1 in 5,000 newborns. Children with Down syndrome and other medical problems, such as congenital heart defects, are at much greater risk. For example, about one in 100 children with Down syndrome also has Hirschsprung disease.
Hirschsprung disease is congenital, or present at birth; however, symptoms may or may not be obvious at birth. If you have a child with Hirschsprung disease, your chances of having more children with Hirschsprung disease are greater than people who don’t have a child with Hirschsprung disease. Also, if a parent has Hirschsprung disease, the chance of their child having Hirschsprung disease is higher. Talk with your doctor to learn more.
Signs and symptoms of Hirschsprung disease in newborns
An early symptom in some newborns is failure to have a first bowel movement within 48 hours after birth. Other symptoms may include
- Green or brown vomit
- Explosive stools after a doctor inserts a finger into the newborn’s rectum
- Swelling of the abdomen
- Diarrhea, often with blood
- Failure to pass their first bowel movement (meconium)
- Nausea and vomiting
- Abdominal pain or distension
- Aganglionic megacolon
- Intestinal obstruction
- Weight loss
- Adducted thumb
- Failure to thrive in infancy
Signs and symptoms in toddlers and older children
Symptoms of Hirschsprung disease in toddlers and older children may include
- Not being able to pass stools without enemas or suppositories. An enema involves flushing liquid into the child’s anus using a special wash bottle. A suppository is a pill Placed into the child’s rectum.
- Swelling of the abdomen.
- Diarrhea, often with blood.
- Slow growth.
- Intellectual disability
What causes Hirschsprung disease? Is it inherited?
Before birth, a child's nerve cells normally grow along the intestines in the direction of the anus. With Hirschsprung disease, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some Hirschsprung disease is inherited, meaning it is passed from parent to child through genes. Hirschsprung disease is not caused by anything a mother did while pregnant.
Isolated Hirschsprung disease 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.
How is Hirschsprung disease diagnosed?
Making a diagnosis for a genetic or rare disease can often be challenging, and the diagnosis for Hirschsprung disease is based on
- A physical exam
- A medical and family history
- Test results
If your doctor suspects Hirschsprung disease, he or she may refer your child to a pediatric gastroenterologist—a doctor who specializes in digestive diseases in children—for additional evaluation.
Surgery for Hirschsprung disease
Hirschsprung disease is a life-threatening illness, and treatment requires surgery. Children who have surgery for Hirschsprung disease most often feel better after surgery. If growth was slow because of Hirschsprung disease, growth typically improves after surgery.
For treatment, a pediatric surgeon will perform a pull-through procedure or an ostomy surgery. During either procedure, the surgeon may remove all or part of the colon, called a colectomy.
During a pull-through procedure, a surgeon removes the part of the large intestine that is missing nerve cells and connects the healthy part to the anus. A surgeon most often does a pull-through procedure soon after diagnosis.
Ostomy surgery is a surgical procedure that reroutes the normal movement of the stool out of the body when a part of the bowel is removed. Creating an ostomy means bringing part of the intestine through the abdominal wall so that stool can leave the body without passing through the anus. The opening in the abdomen through which stool leaves the body is called a stoma. A removable external collection pouch, called an ostomy pouch or ostomy appliance, is attached to the stoma and worn outside the body to collect the stool. The child or caregiver will need to empty the pouch several times each day.
Although most children with Hirschsprung disease do not need ostomy surgery, a child sick from Hirschsprung disease may need ostomy surgery to get better before undergoing the pull-through procedure. This gives the inflamed areas of the intestine time to heal. In most cases, an ostomy is temporary and the child will have a second surgery to close the ostomy and reattach the intestine. However, sometimes children with Hirschsprung disease have a permanent ostomy, especially if a long segment of the bowel is missing nerve cells or the child has repeated episodes of bowel inflammation, which health care providers call enterocolitis.
Ostomy surgeries include the following:
What can I expect as my newborn or child recovers from surgery?
After surgery, your child will need time to adjust to the new structure of his or her large intestine.
Pull-through Procedure RecoveryMost children feel better after the pull-through procedure. However, some children can have complications or problems after surgery. Problems can include
- narrowing of the anus
- leaking stool from the anus
- delayed toilet training
Typically, these problems improve over time with guidance from your child’s doctors. Most children eventually have normal bowel movements.
Ostomy Surgery Recovery
Infants will feel better after ostomy surgery because they will be able to pass gas and stool easily.Older children will feel better as well, although 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 lifestyle 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 your child how to care for an ostomy.
NIH; National Institute of Diabetes and Digestive Diseases. "Hirschsprung Disease." Updated: Sep 2015.
Genetic Home Reference. "Hirschsprung disease." Updated: Jun 27, 2017.
NCBI. "Hirschsprung Disease Overview." Updated: Oct 1, 2015.
NIH; National Center for Advancing Translational Sciences; GARD. "Hirschsprung's disease." Updated: Jun 01, 2017.
Top Hirschsprung Disease Related Articles
Abdominal PainAbdominal pain can have many causes that range from mild to severe. Some of these causes include bloating, gas, colitis, endometriosis, food poisoning, GERD, IBS (irritable bowel syndrome), ovarian cysts, abdominal adhesions, diverticulitis, Crohn's disease, ulcerative colitis, gallbladder disease, liver disease, and cancers. Signs and symptoms of the more serious causes include dehydration, bloody or black tarry stools, severe abdominal pain, pain with no urination or painful urination. Treatment for abdominal pain depends upon the cause.
AnemiaAnemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. There are several types of anemia such as iron deficiency anemia (the most common type), sickle cell anemia, vitamin B12 anemia, pernicious anemia, and aplastic anemia. Symptoms of anemia may include fatigue, malaise, hair loss, palpitations, menstruation, and medications. Treatment for anemia includes treating the underlying cause for the condition. Iron supplements, vitamin B12 injections, and certain medications may also be necessary.
Baby's 1st Yr SlideshowWhat developmental milestones can you expect to see during baby's first year? Find out when babies learn to smile, laugh, crawl, and talk.
Barium EnemaThe barium enema and double contrast barium enema are used to define normal and abnormal anatomy of the colon and rectum. A lower GI series, also known a barium enema, barium enema procedure, barium enema X-ray, or double-contrast barium enema, is an X-ray test in which a white liquid, called barium, is infused through a catheter (tube) inserted through the anus and into the rectum until it fills the large bowel (colon).
Children's Abdominal PainAbdominal pain in children can be more than just a tummy ache. What are the common causes of abdominal pain in children? Learn about pediatric abdominal pain symptoms and treatments for stomach pain in children.
Colonoscopy Procedure and PreparationA colonoscopy is a procedure whereby a docotor inserts a viewing tube (colonoscope) into the rectum for the purpose of inspecting the colon. Colonoscopy is the best method currently available to diagnose, detect, and treat abnormalities within the colon.
Colostomy: A Patient's PerspectiveColostomy surgery is commonly performed by severing the colon to attach the end leading to the stomach to the skin through the wall of the abdomen. There are several types of colostomy procedures, however the "Hartmann's Colostomy" is the most common. Colostomy care of the colostomy bag(s) is important to recovering from colostomy surgery.
ConstipationConstipation is defined medically as fewer than three stools per week and severe constipation as less than one stool per week. Constipation usually is caused by the slow movement of stool through the colon. There are many causes of constipation including medications, poor bowel habits, low-fiber diets, laxative abuse, and hormonal disorders, and diseases primarily of other parts of the body that also affect the colon.
DiarrheaDiarrhea is a change in the frequency and looseness of bowel movements. Symptoms associated with diarrhea are cramping, abdominal pain, and the sensation of rectal urgency. Causes of diarrhea include viral, bacterial, or parasite infection, gastroenteritis, food poisoning, and drugs. Absorbents and anti-motility medications are used to treat diarrhea.
What Is Flexible Sigmoidoscopy?Flexible sigmoidoscopy is a procedure used to examine the lower colon and rectum. Flexible sigmoidoscopy can investigate the possible cause of rectal bleeding, bowel changes, and symptoms such as rectal pain, diarrhea, or constipation. During the procedure, a biopsy of tissue can be taken for further examination, or polyps may be removed.
Genetic DiseasesThe definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Intestinal Gas and Gas PainIntestinal gas and painful bloating are common. Learn about what causes gas pain and how eliminating certain foods from your diet can help relieve symptoms.
Intestines PictureThe intestines are a long, continuous tube running from the stomach to the anus. See a picture of the Intestines and learn more about the health topic.