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Home > E. Pathology by systems > Respiratory system > Trachea and bronchi > tracheal agenesis

tracheal agenesis

Monday 13 November 2006

Definition: tracheal agenesis is one of the tracheal malformations. Malformations seen with tracheal agenesis form patterns which overlap with VACTERL association but are distinct it.

Complete tracheal agenesis is a lethal anomaly. However, segmental forms may be correctable and, the nature of associated anomalies may determine long-term prognosis.


- other lower respiratory tract anomalies

  • laryngeal atresia
  • lung lobation defects
  • complex cardiac malfomations

Clustering group

- CG1 (male excess)

  • trachea
  • larynx
  • cardiovascular system

- CG2 (male excess)

  • severe cardiac defects
  • lung lobation anomalies

- CG3 (male excess)

  • caudal component
  • thoracic anomalies
  • anal
  • renal anomalies

- CG4 (no male excess)

  • multisystem involvement
  • high incidence of aberrant vessels
  • complex cardiac malformations
  • lung lobation defects
  • anomalies of other foregut derivatives


- increasingly severe perturbations in development fields encompassing the developing respiratory tract
- disturbance in the primary development field during blastogenesis with secondary vascular disruptions
- abnormal epithelial-mesenchymal interactions


- unknown
- heterogenous

See also

- malformation cluster analysis
- malformative clustering groups


- Evans JA, Greenberg CR, Erdile L. Tracheal agenesis revisited: analysis of associated anomalies. Am J Med Genet. 1999 Feb 19;82(5):415-22. PMID: 10069714