Hirschsprung disease is a congenital condition characterised by the absence of ganglion cells in the distal bowel, leading to a lack of peristalsis and resultant bowel obstruction. This condition is clinically significant as it can cause severe constipation, abdominal distension, and enterocolitis if not diagnosed and treated early. A key association is its occurrence in patients with Down syndrome, highlighting the need for careful evaluation in affected individuals.
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