Colonic Atresia
from OrphaChat — a Rare Disease Podcast Hosted by RCH
Colonic atresia is a rare congenital condition where the large intestine is obstructed or disconnected, occurring in roughly 1 in 40,000 live births. Affected newborns typically display symptoms such as abdominal distension, bilious vomiting, and a failure to pass meconium shortly after delivery. While the exact cause remains debated, leading theories suggest intrauterine vascular accidents or genetic factors, particularly involving TTC7A mutations in cases of multiple atresias. Diagnosis is often suggested by prenatal ultrasound and confirmed postnatally through abdominal X-rays and contrast enemas. Management requires surgical intervention, ranging from primary anastomosis to staged procedures involving a temporary colostomy. Although the condition can be associated with other anomalies like Hirschsprung’s disease or cardiac defects, contemporary surgical outcomes generally show high survival rates.
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