tracheal agenesis

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.

Associations

 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

Physiopathology

 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

Etiology

 unknown
 heterogenous

See also

 malformation cluster analysis
 malformative clustering groups

References

 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