What are the other Names for this Condition? (Also known as/Synonyms)

• Anterior Submucous Laryngeal Cleft (subtype)
• Congenital Laryngeal Cleft (subtype)
• PLC (Posterior Laryngeal Cleft)

What is Laryngeal Cleft? (Definition/Background Information)

• A Laryngeal Cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. 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
• 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.  Exactly why these abnormalities occur is unknown
• There are several different types of Laryngeal Clefts (Types I through IV), classified based on the extent of the clefting

(Source: Laryngeal Cleft; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Based on the extent of clefting, Laryngeal Cleft is divided into 4 different subtypes:

• Type I Laryngeal Cleft - the mildest form, in which the opening in the larynx is above the vocal cords (voice box)
• Type II Laryngeal Cleft - in which the opening reaches the vocal cords into the lower cartilage
• Type III Laryngeal Cleft - the opening goes beyond the vocal cords and extends to the trachea (wind pipe)
• Type IV Laryngeal Cleft - the most severe form, in which the opening in the larynx goes deep into the trachea

Who gets Laryngeal Cleft? (Age and Sex Distribution)

• Laryngeal Cleft is a rare congenital disorder, occurring at a frequency of 1:10,000 to 1:20,000 live births
• The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Laryngeal Cleft? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Laryngeal Cleft

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Laryngeal Cleft? (Etiology)

• Laryngeal Cleft is caused by incomplete development of the tracheo-esophageal septum during fetal development
• The tracheo-esophageal septum functions as a wall between the larynx and esophagus, so that food goes down the esophagus and the larynx remains clear for airflow
• In individuals with Laryngeal Cleft, an abnormal opening in the larynx allows food to enter the larynx, causing the characteristic signs and symptoms of the condition
• The exact cause of the abnormality during fetal development is not known at the present time

What are the Signs and Symptoms of Laryngeal Cleft?

The signs and symptoms of Laryngeal Cleft may include:

• Choking while feeding
• Gagging
• Aspiration
• Regurgitation
• Cyanosis
• Laryngeal stridor (high pitched sound while breathing)
• Abnormality of the voice

(Source: Laryngeal Cleft; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

• Gastric esophageal reflux
• Cough
• Shortness of breath
• Pauses in breathing (apnea)
• Frequent lower respiratory tract infections

How is Laryngeal Cleft Diagnosed?

Laryngeal Cleft is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies, which may include microlaryngoscopy and bronchoscopy
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Laryngeal Cleft?

The complications of Laryngeal Cleft may include:

• Poor weight gain
• Pneumonia
• Chronic lung disease

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Laryngeal Cleft Treated?

The treatment for Laryngeal Cleft may include the following:

• Antibiotics for infections
• If the condition does not resolve and a child continues to choke or have respiratory distress, surgical repair of the opening, specifically in types II, III and IV

How can Laryngeal Cleft be Prevented?

• The exact cause of Laryngeal Cleft is not known at the present time, and no methods or guidelines exist for its prevention
• Feeding a child in an upright position may help reduce choking episodes and gastric esophageal reflux
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Laryngeal Cleft? (Outcomes/Resolutions)

• The prognosis of Laryngeal Cleft is dependent upon the extent of opening in the larynx, severity of signs and symptoms and complications, if any
• Individuals with Laryngeal Cleft type I have mild signs and symptoms, and in most cases, routine monitoring is sufficient, as the condition may resolve with growth of the child
• Those with types II, III and IV may continue to experience significant clinical signs and symptoms necessitating surgical management. Many affected individuals may develop chronic lung disease 
• If Laryngeal Cleft co-occurs with other congenital abnormalities, the outcome may be determined by the severity of those conditions as well
• Typically, the prognosis is made on a case-by-case basis

Additional and Relevant Useful Information for Laryngeal Cleft:

• Laryngeal Cleft may co-exist with other developmental abnormalities, such as tracehobronchomalacia, aortic valvular stenosis and ventricular septal defects, among others
• Additionally, Laryngeal Cleft can also occur as a manifestation of a syndrome. Examples of syndromes in which Laryngeal Cleft is reported include Opitz GBBB syndrome and Pallister-Hall syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/