Tracheal agenesis

Disease Overview

Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia).[10575] Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth.[10578] The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association. Surgery to repair the trachea may be attempted; however, the long-term outlook is generally poor in most cases.[10580]

Synonyms

• Congenital tracheal agenesis