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Isolated tracheoesophageal fistula

ORPHA:454750· ICD-10 Q39.2

Definition

A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.

Prevalence
1-9 / 100 000
Inheritance
Not applicable
Age of onset
Neonatal