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Disease Profile

Laryngeal cleft

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)

Posterior laryngeal cleft (PLC); Anterior submucous laryngeal cleft (subtype); Laryngo-tracheo-esophageal cleft;


laryngeal cleft is a rare malformation involving the larynx (known as the voice box) and the esophagus (known as the food pipe). Normally, when the larynx develops, it is completely separate from the esophagus so that swallowed foods travel directly through the esophagus into the stomach. A laryngeal cleft occurs when these structures do not develop normally in an embryo, and there is an opening connecting the larynx (and sometimes trachea) and the esophagus.[1][2] This enables food and liquid that is swallowed to pass through the opening to the larynx, and into the lungs.[1] Signs and symptoms may appear in the first few months of life and may include feeding problems, trouble swallowing, failure to thrive, reflux, coughing, wheezing, stridor, aspiration, respiratory distress, and recurrent lung infections.[1][3] There are several different types of laryngeal clefts (types I through IV), which are classified based on the specific location and extent (severity) of the cleft.[1]

A cleft can occur as an isolated abnormality, as part of an underlying syndrome or condition (such as Opitz-Frias, VACTERL, Pallister-Hall, CHARGE), or with other associated malformations.[3] Treatment depends on the location and severity of the cleft and symptoms. For example, small clefts can sometimes be managed with medications to control symptoms such as reflux or aspiration, while some smaller clefts and larger clefts may need to be treated with endoscopic procedures or surgery.[3]


A laryngeal cleft can be associated with a variety of symptoms depending on the type of cleft and the person's overall health.[4] There are four types of laryngeal clefts (types I through IV), which are classified based on their specific location and size:[4][1]

  • Type I clefts are the mildest; in this type the cleft (opening) between the larynx and the esophagus is located above the vocal cords. This type may not be diagnosed immediately (sometimes not until age 5), and in an otherwise healthy child it may not cause significant symptoms.
  • Type II clefts extend into the lower cartilage of the voice box, below the vocal chords.
  • Type III clefts extend beyond the voice box and into the trachea (windpipe).
  • Type IV clefts are the most severe, with the cleft extending even further down into the trachea (sometimes all the way to the bottom).

Initial symptoms of a laryngeal cleft may include coughing (especially with feeding), feeding difficulties, and some degree of respiratory distress (depending on the depth of the cleft). Other signs and symptoms may include aspiration, recurrent lung infections, stridor, wheezing, failure to thrive, and cyanosis (particularly in those with other underlying health problems or malformations).[1][3][4][ Type III and IV clefts are associated with more severe respiratory symptoms, recurrent pneumonia, and excessive mucous in the lungs. Types III and IV usually become apparent within the first few days of life.[4]

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:
100% of people have these symptoms
Laryngeal cleft
30%-79% of people have these symptoms
Choking episodes
Blue discoloration of the skin
Trouble breathing
Hoarse cry
Impaired oropharyngeal swallow response
Softening of voice box tissue
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

5%-29% of people have these symptoms
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal

[ more ]

Percent of people who have these symptoms is not available through HPO
Abnormality of the voice
Voice abnormality
Autosomal recessive inheritance
Laryngeal stridor


The best treatment for a laryngeal cleft depends on the type of cleft and the severity of the symptoms it causes. In some cases, minor clefts (particularly types I or II) can be managed with medications that treat or prevent symptoms such as reflux or aspiration.[3] Type I clefts may correct themselves as a person grows.[5] A smaller-sized cleft that requires additional treatment may be treated with endoscopic repair. More severe clefts (particularly types III and IV) often require endocopic procedures or surgery.[3][5]


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 Laryngeal cleft. Click on the link to view a sample search on this topic.

      Selected Full-Text Journal Articles


        1. Laryngeal Cleft. Boston Children's Hospital. https://www.childrenshospital.org/conditions-and-treatments/conditions/l/laryngeal-cleft. Accessed 7/16/2018.
        2. Laryngotracheal Cleft (LTC). Children's Hospital of Philadelphia. https://www.chop.edu/conditions-diseases/laryngotracheal-cleft-ltc. Accessed 7/16/2018.
        3. Isaacson GC. Congenital anomalies of the larynx. UpToDate. Waltham, MA: UpToDate; January 9, 2017; https://www.uptodate.com/contents/congenital-anomalies-of-the-larynx.
        4. Johnston DR, Watters K, Ferrari LR, Rahbar R. Laryngeal cleft: evaluation and management. Int J Pediatr Otorhinolaryngol. June, 2014; 78(6):905-911. https://www.ncbi.nlm.nih.gov/pubmed/24735606.
        5. Tewfik TL. Congenital Malformations of the Esophagus. Medscape Reference. March 8, 2017; https://emedicine.medscape.com/article/837879-overview.

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