Symptoms & Causes of Hirschsprung Disease

What are the symptoms of Hirschsprung disease?

Symptoms of Hirschsprung disease vary. Signs or symptoms in newborns may be different than symptoms in older infants, children, and adults.

Signs and symptoms in newborn infants

Some infants with Hirschsprung disease have signs and symptoms of intestinal obstruction shortly after they are born, which include7,8

• not having a first bowel movement within 48 hours after birth
• green or brown vomit
• swollen abdomen, or belly
• problems feeding
• explosive stools or diarrhea after a doctor inserts a finger into the newborn’s rectum

Newborns with Hirschsprung disease may also have signs or symptoms of complications.

Symptoms in older infants, children, and adults

Children with Hirschsprung disease who don’t have signs and symptoms of intestinal obstruction at birth may not be diagnosed and treated until they are older. Common symptoms in older infants and children include

• chronic constipation that doesn’t get better after treatment with oral laxatives—laxatives that are taken by mouth
• swollen abdomen
• malnutrition or failure to thrive, meaning that an infant or child weighs less or is gaining less weight than expected for his or her age
• symptoms of Hirschsprung-associated enterocolitis, such as diarrhea

Symptoms of Hirschsprung disease may include swelling of the abdomen.
In older infants and children, symptoms of Hirschsprung disease, such as constipation, may be similar to symptoms of other conditions. Therefore, doctors may not suspect and diagnose Hirschsprung disease right away.

In rare cases, Hirschsprung isn’t diagnosed and treated until adulthood. Adults with Hirschsprung disease typically have a history of abdominal swelling and chronic constipation that doesn’t get better after taking oral laxatives.

What causes Hirschsprung disease?

Hirschsprung disease occurs when nerve cells in the intestines don’t develop normally before an infant is born. Experts are still studying factors that may cause problems with how these nerve cells grow.

Certain genes increase the chance that a child will have Hirschsprung disease. Experts think that several different genes may play a role.

References

7] Wesson DE, Lopez ME. Congenital aganglionic megacolon (Hirschsprung disease). UpToDate. Updated July 8, 2019. Accessed March 15, 2021. [www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease

[8] Ambartsumyan L, Smith C, Kapur RP. Diagnosis of Hirschsprung disease. Pediatric Developmental Pathology. 2020;23(1):8–22. doi: 10.1177/1093526619892351

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