Laryngeal cleft

Title

Other Names:

Posterior laryngeal cleft (PLC); Type 1A (minor laryngeal cleft); Anterior submucous laryngeal cleft (subtype); Posterior laryngeal cleft (PLC); Type 1A (minor laryngeal cleft); Anterior submucous laryngeal cleft (subtype); Congenital laryngeal clefts (subtype); Cleft, larynx posterior See More

Summary Summary

A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus.^[1]^[2] Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the esophagus so food and liquid can pass through the larynx into the lungs.^[1] There are several different types of laryngeal clefts (Types I through IV), classified based on the extent of the clefting.^[3]^[4]

Last updated: 9/1/2011

Symptoms Symptoms

The symptoms of laryngeal clefts range from mild stridor to significant difficulties with breathing and swallowing. Severity of symptoms depends on the severity of the cleft.^[4] Swallowing problems, a husky cry and feeding difficulties are common.^[1] Feeding often causes stridor, coughing, choking, gagging, cyanosis, regurgitation, and frequent respiratory infections.^[1]^[3]^[4] Many individuals with laryngeal clefts develop chronic lung disease.^[3]

Last updated: 9/2/2011

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Laryngomalacia	90%
Abnormality of the voice	-
Aspiration	-
Cyanosis	-
Laryngeal stridor	-

Last updated: 9/1/2016

Cause Cause

During fetal development, the trachea and esophagus begin as one tube. They later separate when a wall of tissue known as the tracheoesophageal septum forms, dividing the original tube into the trachea and esophagus. If the tracheoesophageal septum fails to form, the trachea and esophagus may remain open to each other or abnormally shaped, causing abnormalities such as a laryngeal cleft, tracheoesophageal fistula, or esophageal atresia.^[2]^[4] Exactly why these abnormalities occur is unknown.

Last updated: 9/2/2011

Treatment Treatment

Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126] Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth. During infancy, nursing in the upright position or thickening of formula may be necessary. If these treatments are not enough, surgery may be recommended.^[3] Different surgical approaches have been proposed for the management of laryngeal cleft. The timing and approach of surgery may differ depending upon the severity of symptoms, associated abnormalities, and type of cleft.^[4]

Last updated: 9/2/2011

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Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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

Laryngeal Cleft
E-mail: info@laryngeal-cleft.com
Website: http://www.laryngeal-cleft.com

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.
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

Rahbar R, Rouillon I, Roger G, Lin A, Nuss RC, Denoyelle F, McGill TJ, Healy GB, Garabedian EN. The Presentation and Management of Laryngeal Cleft: A 10-Year Experience. Archives of Ololaryngology-Head & Neck Surgery. 2006; 132(12):1335-1341.

GARD Answers GARD Answers

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My son was diagnosed with a laryngeal cleft 4 months ago and I can't find much information about this condition. Everything I read is from a medical journal. I'm just looking for more information about laryngeal cleft. See answer

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References References

Laryngeal Cleft. Children's Hospital Boston. http://www.childrenshospital.org/az/Site1137/mainpageS1137P0.html. Accessed 8/30/2011.
Pezzettigotta SM, Leboulanger N, Roger G, Denoyelle F, Garabedian EN. Laryngeal Cleft. Otolaryngol Clin North Am. 2008; 41:913-933. http://www.ncbi.nlm.nih.gov/pubmed/18775342. Accessed 8/30/2011.
Tewfik TL, Karsan N, Laberge JM. Congenital Malformations of the Esophagus. eMedicine. 2010; http://emedicine.medscape.com/article/837879-overview. Accessed 8/30/2011.
Rahbar R, Rouillon I, Roger G, Lin A, Nuss RC, Denoyelle F, McGill TJ, Healy GB, Garabedian EN. The Presentation and Management of Laryngeal Cleft. Archives of Ololaryngology-Head & Neck Surgery. 2006; 132:1335-1341. http://archotol.ama-assn.org/cgi/content/full/132/12/1335. Accessed 8/30/2011.
Rahbar R, Chen JL, Rosen RL, Lowry KC, Simon DM, Perez JA, Buonomo C, Ferrari LR, Katz ES. Endoscopic repair of laryngeal cleft type I and type II: when and why?. Laryngoscope. 2009; 119:1797-1802. http://www.ncbi.nlm.nih.gov/pubmed/19554639. Accessed 8/31/2011.