Living with Tracheal agenesis
A rare birth defect in which the windpipe is missing or very underdeveloped, causing breathing trouble right after birth.
Understanding Tracheal agenesis
Extra amniotic fluid may be seen during pregnancy. After birth, babies have trouble breathing, a bluish skin color (cyanosis), and no audible cry. About 90% of cases come with other differences in the heart, digestive tract, or urinary and genital organs. Some cases may be part of VACTERL association.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Windpipe that is missing or underdeveloped (tracheal atresia)
- Trouble breathing at birth
- Bluish skin color (cyanosis)
- No audible cry after birth
- Small or missing lungs
- Extra amniotic fluid during pregnancy (polyhydramnios)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the underlying cause is currently unknown.
Also known as: agenesis of trachea; congenital absence of trachea; tracheal absence
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tracheal agenesis.
Explore research for Tracheal agenesis
Explore actively recruiting Tracheal agenesis studies with HealthSpark.
Find actively recruiting studies for Tracheal agenesis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Tracheal agenesis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Tracheal agenesis
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Tracheal agenesis experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.