Trachealagenesien

Trachealagenesien refers to a group of extremely rare congenital anomalies characterized by the absence or severe underdevelopment of the tracheal airways. In affected individuals the normal trachea may be absent or only a short segment may form, leading to life-threatening airway obstruction at birth. Variants differ in whether a proximal tracheal segment is present and whether an abnormal connection, such as a tracheoesophageal fistula, links the airway to the esophagus.

The condition is uncommon and often occurs together with other congenital anomalies, particularly esophageal atresia, congenital heart defects, or vascular malformations. Prenatal signs can include polyhydramnios and difficulties visualizing the fetal trachea, but a definitive diagnosis typically relies on postnatal imaging and endoscopic assessment.

Diagnosis is based on imaging studies, including chest radiographs, computed tomography, and bronchoscopy, which help define the exact airway anatomy and differentiate tracheal agenesis from other causes of neonatal respiratory distress. The anatomical variety influences management options and prognosis.

Management is focused on securing the airway and providing supportive care, with approaches tailored to the individual anatomy. In complete agenesis, conventional ventilation is often not feasible, and outcomes are generally poor. Partial forms may permit limited airway passage or unconventional support, but long-term survival remains uncertain and depends on associated anomalies and the feasibility of palliative or specialized interventions.

See also: Tracheoesophageal fistula; Laryngotracheal malformations; Congenital airway anomalies.