Hirschsprung Disease (also called congenital megacolon, congenital intestinal aganglionosis or aganglionic megacolon)
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 2007-2011, we found that 1.8 babies were born with Hirschsprung disease per 10,000 births.
- Using this data, we estimate about 13 babies are born with Hirschsprung disease every year in Minnesota.
Condition specific organizations
- American Pediatric Surgical Association
- National Digestive Diseases Information Clearinghouse (NDDIC)
- National Organization for Rare Diseases (NORD)
- The Mayo Clinic