Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon.
A newborn who has Hirschsprung's disease usually can't have a bowel movement in the days after birth. In mild cases, the condition might not be detected until later in childhood. Uncommonly, Hirschsprung's disease is first diagnosed in adults.
Surgery to bypass or remove the diseased part of the colon is the treatment.
Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life.
Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after birth.
Other signs and symptoms in newborns may include:
- Swollen belly
- Vomiting, including vomiting a green or brown substance
- Constipation or gas, which might make a newborn fussy
In older children, signs and symptoms can include:
- Swollen belly
- Chronic constipation
- Failure to thrive
It's not clear what causes Hirschsprung's disease. It sometimes occurs in families and might, in some cases, be associated with a genetic mutation.
Hirschsprung's disease occurs when nerve cells in the colon don't form completely. Nerves in the colon control the muscle contractions that move food through the bowels. Without the contractions, stool stays in the large intestine.
Factors that may increase the risk of Hirschsprung's disease include:
- Having a sibling who has Hirschsprung's disease. Hirschsprung's disease can be inherited. If you have one child who has the condition, future biological children could be at risk.
- Being male. Hirschsprung's disease is more common in males.
- Having other inherited conditions. Hirschsprung's disease is associated with certain inherited conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart disease.
Children who have Hirschsprung's disease are prone to a serious intestinal infection called enterocolitis. Enterocolitis can be life-threatening and requires immediate treatment.
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