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Hirschsprung disease
Pronunciation: HIRSH-sproong
Congenital absence of nerve cells in parts of the intestine, causing severe constipation in infants and children.
Full Definition
Hirschsprung disease is a birth defect affecting the large intestine (colon) where nerve cells (ganglion cells) are missing in parts of the intestine. This absence prevents normal bowel movements and causes severe constipation, abdominal distension, and failure to pass meconium in newborns. The condition requires surgical intervention and affects approximately 1 in 5,000 births. Editorial note: Often misspelled as 'Hirshsprung' - the correct spelling includes the 'c'.
Usage
Usage note: Always capitalize the 'H' as it is named after Harald Hirschsprung. Common misspelling omits the 'c'.
In Context
- "The patient was diagnosed with Hirschsprung disease following a rectal biopsy that confirmed the absence of ganglion cells." — Clinical case report
Also known as
congenital aganglionic megacolon
HSCR
Don't confuse with
Hirshsprung disease