Tracheal agenesis

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Tracheal agenesis is a rare congenital disorder characterized by the absence or defect of the trachea. This condition is often associated with other anomalies, particularly of the cardiovascular system, gastrointestinal system, and genitourinary system. The exact cause of tracheal agenesis is unknown, but it is thought to occur during the early stages of embryonic development.

Epidemiology[edit | edit source]

Tracheal agenesis is extremely rare, with fewer than 200 cases reported in the medical literature. The condition affects males more frequently than females, and there is no known racial or ethnic predilection.

Pathophysiology[edit | edit source]

In tracheal agenesis, the trachea fails to develop properly during the early stages of embryonic development. This results in the absence or severe narrowing of the trachea, which can lead to life-threatening respiratory distress shortly after birth. The condition is often associated with other anomalies, particularly of the cardiovascular system, gastrointestinal system, and genitourinary system.

Clinical Presentation[edit | edit source]

Infants with tracheal agenesis typically present with severe respiratory distress shortly after birth. Other signs and symptoms may include cyanosis, apnea, and inability to pass a catheter into the trachea. The diagnosis is usually confirmed by radiography or bronchoscopy.

Treatment[edit | edit source]

The treatment of tracheal agenesis is challenging and often involves multiple specialties. Management strategies may include tracheostomy, laryngotracheoplasty, or tracheal replacement. Despite these interventions, the prognosis for infants with tracheal agenesis is generally poor.

Prognosis[edit | edit source]

The prognosis for infants with tracheal agenesis is generally poor, with most infants dying shortly after birth due to respiratory failure. However, survival into childhood and beyond has been reported in a small number of cases.

See Also[edit | edit source]

Tracheal agenesis Resources
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Contributors: Prab R. Tumpati, MD