National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Laryngomalacia


Other Names:
Laryngomalacia congenital; Congenital laryngomalacia; Congenital laryngeal stridor
Categories:
Laryngomalacia is an abnormality of the voice box (larynx) that leads to the inward collapse of the airway when air is drawn into the lungs (inspiration). It usually becomes apparent at birth or shortly after birth. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. In more severe cases, symptoms may include difficulty breathing with the chest pulling inward (retraction), poor weight gain from difficulty feeding, apnea, and cyanosis. The underlying cause of the condition is unknown. Most cases occur sporadically in people with no family history of the condition. In 90% of affected infants, laryngomalacia will resolve on its own by the time an infant is 18 to 20 months old. However, severe cases may require immediate medical treatment such as medication or surgery.[1][2][3]
Last updated: 7/11/2017
Signs and symptoms of laryngomalacia typically begin at or shortly after birth, with the average age at presentation approximately 2 weeks. The condition is primarily characterized by noisy breathing (stridor) that may be worse when the baby is agitated, feeding, crying or sleeping on his/her back. However, in severe cases, inward pulling of the chest muscles (sternal or intercostal retraction), apnea, cyanosis or significant respiratory distress may be the initial symptom. Feeding difficulties are also common in infants with laryngomalacia and may result in poor weight gain or lead to failure to thrive. Many infants with laryngomalacia are also diagnosed with gastroesophageal reflux. The baby's cry is generally normal, unless laryngitis is present due to reflux.[1][2][3]
Last updated: 7/11/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the voice
Voice abnormality
0001608
Laryngomalacia
Softening of voice box tissue
0001601
30%-79% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Non-midline cleft lip 0100335
Percent of people who have these symptoms is not available through HPO
Abnormal trachea morphology 0002778
Autosomal dominant inheritance 0000006
Congenital laryngeal stridor 0004886
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
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Last updated: 7/1/2020
The reason that laryngomalacia occurs is not known.[1][2] Various theories regarding its cause have been proposed, including anatomic abnormalities, impaired neuromuscular coordination or low muscle tone of laryngeal structures, pharyngo-laryngeal reflux (when stomach acid travels up through the esophagus and reaches the larynx), and abnormalities in the amount of air displaced when breathing (tidal volume).[2][4] 

The development of symptoms of laryngomalacia may result from variable combinations of these factors in each infant. Regardless of the underlying causes(s), the symptoms are due to the cartilage being "floppy," and prolapsing (collapsing) over the larynx when inhaling. This in turn causes the noises generated when breathing.[3]
Last updated: 3/5/2019
Laryngomalacia may be inherited in some instances. Only a few cases of familial laryngomalacia (occurring in more than one family member) have been described in the literature.[5] In some of these cases, autosomal dominant inheritance has been suggested.[5]

Laryngomalacia has also been reported as being associated with various syndromes.[5] In cases where these specific syndromes are inherited, a predisposition to being born with laryngomalacia may be present. However, even within a family, not all people affected with one of these syndromes will have the exact same signs and symptoms (including laryngomalacia). Syndromes that have been associated with laryngomalacia include diastrophic dysplasia, alopecia universalis congenital, XY gonadal dysgenesis, Costello syndrome, DiGeorge syndrome, and acrocallosal syndrome.[5] The inheritance pattern depends upon the specific syndrome present.
Last updated: 7/12/2017
A diagnosis of laryngomalacia is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis, evaluate the severity of the condition, and rule out other disorders that can be associated with similar features. These tests may include:[2][1]
Last updated: 7/12/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Laryngomalacia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

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.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Laryngomalacia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Stephanie Lovinsky-Desir. Laryngomalacia. Medscape Reference. April 2017; http://emedicine.medscape.com/article/1002527-overview.
  2. Bedwell J, Zalzal G. Laryngomalacia. Semin Pediatr Surg. June 2016; 25(33):119-122. https://www.ncbi.nlm.nih.gov/pubmed/27301595.
  3. Ayari S, Aubertin G, Girschig H, Van Den Abbeele T, Mondain M. Pathophysiology and diagnostic approach to laryngomalacia in infants. Eur Ann Otorhinolaryngol Head Neck Dis. October, 2012; 129(5):257-263. https://www.ncbi.nlm.nih.gov/pubmed/23078980.
  4. Rathi A, Rathi S.. Relative imbalance as etiology of laryngomalacia - A new theory.. Med Hypotheses. January, 2017; 98:38-41. https://www.ncbi.nlm.nih.gov/pubmed/28012601.
  5. Chen JL, Messner AH, Chang KW. Familial laryngomalacia in two siblings with syndromic features. Int J Pediatr Otorhinolaryngol. September 2006; 70(9):1651-1655.