What is it?

Hirschsprung’s disease is a disorder in which the intestinal nerve cells, called ganglionic cells, do not develop properly in babies. This results in problems with stool passage in the colon. The muscle fibers in the colon do not function properly, leading to lack of bowel movement. The cause for Hirschsprung’s is not clear yet. It is sometimes familial and has to do with some genetic mutation. Males tend to get it more than females, and children with Down syndrome have a higher risk as well. The major complication of Hirschsprung’s disease is enterocolitis which is an intestinal infection that can even be life-threatening.

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Hirschsprung’s Disease (HD or HSCR).

Additional names

This group contains additional names:
- Aganglionosis of colon
- Congenital aganglionic megacolon

Signs & symptoms

Symptoms of Hirschsprung’s disease vary with the severity of the conditions. Symptoms usually develop a few days after birth but in mild cases, it may only be diagnosed in childhood. Typically, the baby will not have bowel movements within the first 48 hours of life. The baby’s abdomen may be swollen. Other symptoms may include constipation, gas, vomiting and diarrhea. In older children who were not diagnosed, symptoms may also include failure to thrive, fatigue and chronic constipation.


If Hirschsprung’s disease is suspected due to relevant findings in the medical history or physical examination, an abdominal X-ray is suggested using barium or another contrast dye. The X-ray may show the narrowing of the bowel. Anal manometry is a test fit for older children, and it measures the control of the muscles around the rectum. For a confirmation of the diagnosis, a colon biopsy may be performed.


The treatment for Hirschsprung’s disease is a surgical treatment. A Pull-through surgery is a typically laparoscopic surgery during which the lining of the diseased part of the colon is removed and a healthy segment is attached to the anus instead. For very ill children, an ostomy surgery, done in two steps may be suggested. First, the disease part is removed and a healthy portion of the colon is attached to the abdomen wall, connected to a stoma-a bag where the stool can be stored. In the second step, after the colon has had time to heal, the stoma is closed and the healthy part is connected to the anus or the rectum.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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