Tracheal agenesis

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Tracheal agenesis (pronounced: truh-kee-ul uh-jen-uh-sis) is a rare and often fatal congenital anomaly where the trachea or windpipe fails to develop.

Etymology

The term "Tracheal agenesis" is derived from the Greek words "tracheia" meaning "rough" or "windpipe", and "agenesis" meaning "not generated".

Definition

Tracheal agenesis is a rare congenital disorder characterized by the absence or incomplete development of the trachea. This condition often leads to severe respiratory distress immediately after birth.

Classification

Tracheal agenesis is classified into three types based on the Floyd's classification system:

  • Type I: The trachea is short but present, with the bronchi arising from its distal end.
  • Type II: The trachea is absent, with the bronchi arising directly from the esophagus.
  • Type III: The trachea is absent, with the bronchi arising separately from the esophagus.

Symptoms

The symptoms of tracheal agenesis may include cyanosis (bluish color of the skin due to lack of oxygen), inability to breathe, absence of cry, and inability to pass a tube into the trachea.

Diagnosis

Diagnosis of tracheal agenesis is often made after birth when the newborn presents with severe respiratory distress. Prenatal diagnosis is challenging but can be suspected if there are associated anomalies detected on ultrasound.

Treatment

Treatment of tracheal agenesis is challenging and often involves emergency surgery to establish an airway. Long-term prognosis is generally poor due to associated anomalies and complications.

Related Terms

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