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Definition

A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.

Acronym

HSCR1

Synonyms

Aganglionic megacolon
Colonic aganglionosis
MGC

Keywords

Hirschsprung disease

 
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