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Disease Profile
Laryngomalacia
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.
0
Age of onset
Neonatal
ICD-10
Q31.5
Inheritance
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.
X-linked
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases
Summary
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
Symptoms
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:
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 roof of mouth
|
0000175 | |
Non-midline |
0100335 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal trachea morphology | 0002778 | |
0000006 | ||
0004886 | ||
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Cause
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]
Diagnosis
- Flexible fiberoptic laryngoscopy (nasolaryngoscopy)
- Airway fluoroscopy
- Direct laryngoscopy
- Bronchoscopy
Organizations
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
-
Coping With Laryngomalacia, Inc
PO Box 313
Port Monmouth, NJ 07758
E-mail: [email protected]
Website: https://www.copingwithlm.org/ -
Cure TBM
c/o Jennifer Champy
128 Pennsylvania Court
Chapin, SC 29036
Telephone: 1-973-534-7158
E-mail: [email protected]
Website: https://www.curetbm.org/
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.
References
- Stephanie Lovinsky-Desir. Laryngomalacia. Medscape Reference. April 2017; https://emedicine.medscape.com/article/1002527-overview.
- Bedwell J, Zalzal G. Laryngomalacia. Semin Pediatr Surg. June 2016; 25(33):119-122. https://www.ncbi.nlm.nih.gov/pubmed/27301595.
- 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.
- 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.
- 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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