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Disease Profile


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)

Laryngomalacia congenital; Congenital laryngomalacia; Congenital laryngeal stridor


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


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]


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]

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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Abnormality of the voice
Voice abnormality
Softening of voice box tissue
30%-79% of people have these symptoms
Cleft palate
Cleft roof of mouth
Non-midline cleft lip
Percent of people who have these symptoms is not available through HPO
Abnormal trachea morphology
Autosomal dominant inheritance
Congenital laryngeal stridor
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]



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]


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]


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.

    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.


      1. Stephanie Lovinsky-Desir. Laryngomalacia. Medscape Reference. April 2017; https://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.

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