What are the other Names for this Condition? (Also known as/Synonyms)

• Congenital Tracheal Agenesis

What is Tracheal Agenesis? (Definition/Background Information)

• Tracheal Agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia)
• Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth
• 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

(Source: Tracheal Agenesis; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Tracheal Agenesis? (Age and Sex Distribution)

• Tracheal Agenesis is a congenital disorder involving the windpipe. The condition approximately affects 1 in 50,000 newborns
• The onset of symptoms may occur before or at birth
• Both genders may be affected. However, males are more susceptible to this condition than females
• Worldwide, individuals of all races and ethnicities may be affected

What are the Risk Factors for Tracheal Agenesis? (Predisposing Factors)

The risk factors for Tracheal Agenesis may include:

• High volume of amniotic fluid during gestation
• A family history of certain inherited disorders, such as VACTERL association (since Tracheal Agenesis may occur in such syndromes)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. 

Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Tracheal Agenesis? (Etiology)

• The cause of Tracheal Agenesis is not clear at this time
• The disorder often occurs in association with gastrointestinal, genitourinary and cardiovascular anomalies, as well as polyhydramnios (high volume of amniotic fluid)

What are the Signs and Symptoms of Tracheal Agenesis?

The signs and symptoms of Tracheal Agenesis may include:

• Cyanosis 
• No audible cry at birth
• Abnormal cardiac septum morphology
• Aplasia/hypoplasia of the lungs
• Respiratory insufficiency

(Source: Tracheal Agenesis; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Tracheal Agenesis Diagnosed?

Tracheal Agenesis is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Laryngoscopy and a helical computerized tomography (CT) scan of the airway for confirmation of Tracheal Agenesis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Tracheal Agenesis?

The complications of Tracheal Agenesis may include those, which may develop due to conditions that often co-occur Tracheal Agenesis. Such complications may include:

• Respiratory failure
• Heart failure

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Tracheal Agenesis Treated?

• There is no cure for Tracheal Agenesis, and treatment is usually given to manage the signs and symptoms and any complication that develops
• Prolonged ventilation via intubation of esophagus may be an option
• Esophageal reconstruction with colonic interposition graft has been successful in one case, where the individual was affected with tracheal agenesis with a bronchoesophageal fistula

Note: At the present time, suitable materials for tracheal prosthesis are not available, and therefore, tracheal repair is not possible for this condition.

How can Tracheal Agenesis be Prevented?

At the present time, no methods or guidelines are available for the prevention of Tracheal Agenesis, since the exact cause of this condition is not known.

• If the condition is associated with an inherited disorder, it may not be preventable
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Tracheal Agenesis? (Outcomes/Resolutions)

• The prognosis of Tracheal Agenesis is poor, and the majority of newborns succumb to the disorder
• Typically, the prognosis may be made on a case-by-case basis

Additional and Relevant Useful Information for Tracheal Agenesis:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/