Hirschsprung Disease - Minnesota Department of Health

Hirschsprung Disease (also called congenital megacolon, congenital intestinal aganglionosis or aganglionic megacolon)

Condition Description

Hirschsprung disease (HURSH-sproong . duh-zeez) is a congenital condition where the large intestine (rectal area) lacks a kind of nerve cell called ganglion cells. Most babies (80%) have just a short segment of bowel affected, termed “short segment disease”. Other babies (about 15% of those with Hirschprung disease) have a larger section of colon that lacks these special cells, and that affected bowel is located higher up in the colon (long-segment disease). A few babies (perhaps 5%) will lack these cells in their entire large intestine (called aganglionosis). Hirschsprung disease occurs in 1 of 5000 live births and accounts for 20% of neonatal bowel obstructions. The most common type is three to four times more common in boys than girls. A family history can be traced in 7% of cases. There is a mortality rate of 20-25%. Children with Down syndrome (Trisomy 21) have a 3-10% risk of also being affected with Hirschsprung disease. Our program has been tracking Hirschsprung disease among live births in select counties since 2005 and are gradually expanding statewide.

  • Using data from births to Hennepin and Ramsey county residents between 2010-2014, we found that 2.6 babies were born with Hirschsprung disease per 10,000 births.
  • Using this data, we estimate about 18 babies are born with Hirschsprung disease every year in Minnesota.

Condition specific organizations

Additional information and resources for families are available.
Updated Tuesday, 14-May-2019 12:59:40 CDT