This disease is named for Harald Hirschsprung, the Dutch physician who first described the disease in 1886.

It involves an enlargement of the colon, caused by bowel obstruction resulting from an aganglionic section of bowel (the normal enteric nerves are absent) that starts at the anus and progresses upwards. The length of bowel that is affected varies but seldom stretches for more than a foot or so.

The disease is congenital but occasionally, symptoms do not appear until early adulthood. In infants, the primary symptom is not passing meconium within the first 24 to 48 hours of life.

Definitive diagnosis is via rectal biopsy. Treatment is always surgical, with resection of the offending area, often with a colostomy performed before a second stage procedure to reanastomose the colon with the anus.