Tracheal agenesis

Rare congenital disorder

Tracheal agenesis is a rare congenital disorder characterized by the complete absence of the trachea. It is a life-threatening condition that typically presents immediately after birth with severe respiratory distress. The condition is often associated with other congenital anomalies.

Classification

Tracheal agenesis is classified into three types based on the anatomical presentation:

• Type I: The trachea is absent, and the bronchi arise directly from the esophagus.
• Type II: The trachea is absent, and the bronchi arise from a short segment of the trachea that is connected to the esophagus.
• Type III: The trachea is absent, and the bronchi arise directly from the larynx.

Epidemiology

Tracheal agenesis is an extremely rare condition, with an estimated incidence of 1 in 50,000 to 1 in 100,000 live births. It is more common in males than females.

Pathophysiology

The exact cause of tracheal agenesis is unknown, but it is believed to result from a disruption in the normal development of the trachea during embryogenesis. This disruption may be due to genetic factors or environmental influences.

Clinical Presentation

Newborns with tracheal agenesis typically present with:

• Severe respiratory distress
• Cyanosis
• Absence of audible crying

Attempts at intubation are usually unsuccessful due to the absence of the trachea.

Diagnosis

Diagnosis is often made shortly after birth based on clinical presentation and imaging studies. X-ray and computed tomography (CT) scans can help confirm the absence of the trachea and identify associated anomalies.

Treatment

Management of tracheal agenesis is challenging and often requires a multidisciplinary approach. Surgical options are limited and depend on the type of agenesis and the presence of other anomalies. In some cases, a tracheostomy may be attempted, but the prognosis is generally poor.

Prognosis

The prognosis for infants with tracheal agenesis is generally poor, with most affected infants not surviving beyond the neonatal period. Survival is rare and usually associated with extensive surgical intervention and supportive care.

Related pages

• Congenital disorder
• Respiratory distress syndrome
• Esophageal atresia

External links

• Tracheal Agenesis: A Review of the Literature

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Incidence of congenital malformations associated with tracheal agenesis.

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  Incidence of congenital malformations