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Disease Profile

Congenital tracheomalacia

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Tracheomalacia, congenital; Type 1 tracheomalacia; Congenital major airway collapse


Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Lung Diseases


Congenital tracheomalacia is when an infant is born with weak cartilage around the windpipe (trachea) that makes it difficult to keep the airway open.[1] The trachea can collapse when breathing out. Symptoms vary from mild to severe and may include noisy breathing (stridor), shortness of breath, difficulty breathing, and bluish skin (cyanotic spells). Symptoms typically worsen during periods of activity. Tracheomalacia can occur on its own or along with other airway problems. It can also occur with congenital abnormalities that affect other parts of the body.[2] Tracheomalacia often resolves on its own by the second year of life.[1] Treatment of symptoms may include humidified air, chest physical therapy, or continuous positive airway pressure (CPAP) for respiratory distress.[2] Severe tracheomalacia may need to be treated with surgery.[1]


Diagnosis typically includes reviewing the infant's medical history and performing a bronchoscopy to view the airway. Additional tests that may be considered include CT scan, dynamic MRI, or fluoroscopy.[1][3]


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital tracheomalacia. Click on the link to view a sample search on this topic.


        1. Snijders D, Barbato A. An Update on Diagnosis of Tracheomalacia in Children. Eur J Pediatr Surg. August, 2015; 25(4):333-335. https://www.ncbi.nlm.nih.gov/pubmed/26276910.
        2. Daniel S Schwartz. Tracheomalacia. Medscape Reference. July 20, 2016; https://emedicine.medscape.com/article/426003-overview.
        3. Testing & Diagnosis for Tracheomalacia in Children. https://www.childrenshospital.org/conditions-and-treatments/conditions/t/tracheomalacia/testing-and-diagnosis. Accessed 2/2/2017.
        4. Hysinger EB, Panitch HB. Paediatric Tracheomalacia. Paediatr. Respir. Rev. January 2016; 17:9-15. https://www.ncbi.nlm.nih.gov/pubmed/25962857.
        5. Oermann CM. Congenital anomalies of the intrathoracic airways and tracheoesophageal fistula. UpToDate. Dec 7, 2016;
        6. Tracheomalacia Symptoms & Causes. Boston Children's Hospital. https://www.childrenshospital.org/conditions-and-treatments/conditions/t/tracheomalacia/symptoms-and-causes. Accessed 2/2/2017.

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