Laryngeal Cleft: Symptoms, Types, Causes and Treatment

Laryngeal cleft is a rare congenital condition that disrupts the natural separation between the larynx (voice box) and the esophagus, potentially leading to a variety of serious breathing and feeding challenges. Understanding its symptoms, classification, origins, and the latest treatment approaches is essential for parents, caregivers, and clinicians alike. This article brings together the most up-to-date research to shed light on this complex condition.

Symptoms of Laryngeal Cleft

Laryngeal cleft often presents with a mix of respiratory and feeding issues, which can easily be mistaken for more common childhood ailments. Recognizing the signs early is crucial for timely intervention and reducing complications.

Symptom	Description	Prevalence/Notes	Source(s)
Aspiration	Food/liquids enter airway during swallow	Most common, especially with thin liquids	3 5 12
Stridor	Noisy breathing	Often present in moderate/severe cases	1 2 7
Chronic cough	Persistent cough	Recurrent, linked to aspiration	1 5
Feeding difficulties	Choking, dysphagia, poor weight gain	Especially in infants	2 3 5 7
Respiratory infections	Recurrent pneumonia, bronchitis	Due to repeated aspiration	1 2 5
Hoarse cry	Weak or abnormal-sounding cry	Occasionally observed	2
Cyanosis	Bluish skin from low oxygen	Severe forms, during feeding	2

Table 1: Key Symptoms

Recognizing the Signs

Laryngeal cleft can manifest differently depending on the severity and type of cleft:

• Aspiration is the hallmark symptom, particularly with thin liquids, resulting in coughing or choking during feeds 3 5 12.
• Stridor (a high-pitched, wheezing sound) and chronic cough often accompany aspiration, especially in more severe cases 1 2.
• Feeding difficulties—including choking, gagging, and failure to thrive—may be noticed early in life, sometimes prompting further investigation 2 3 5 7.
• Recurrent respiratory infections such as pneumonia or bronchitis are common due to repeated entry of food or liquids into the lungs 1 2 5.
• In severe cases, cyanosis (bluish discoloration of the skin) can occur during feeding episodes due to airway compromise 2.

Diagnostic Challenges

The symptoms of laryngeal cleft overlap with more common pediatric disorders such as gastroesophageal reflux disease (GERD), laryngomalacia, or neurological swallowing problems 2 5. This overlap means that a high index of suspicion is required, particularly when standard treatments for these conditions fail or when symptoms persist 4 5. Proper diagnosis frequently involves specialized swallowing studies and endoscopic evaluation 3 5.

Types of Laryngeal Cleft

Laryngeal clefts are classified by how far the abnormal opening extends down the airway and into the esophagus. The classification not only helps in understanding the clinical severity but also guides treatment strategies.

Type	Extension/Location	Typical Symptoms Severity	Source(s)
Type 0	Supraglottic interarytenoid cleft	Mild, subtle	6 2
Type I	Interarytenoid region, above vocal cords	Mild to moderate, aspiration	1 3 5 6 12
Type II	Extends below vocal cords to cricoid cartilage	Moderate to severe	1 2 6
Type III	Into cervical trachea	Severe, life-threatening	1 2 6
Type IV	Into thoracic trachea	Most severe	2 6

Table 2: Laryngeal Cleft Types

Understanding the Classification

Laryngeal clefts are most commonly described using the Benjamin-Inglis system, which divides clefts into four main types (I-IV), with some authors also recognizing a minor "Type 0" 2 6:

• Type 0: A very subtle, supraglottic cleft, often missed without careful endoscopic examination. Symptoms tend to be mild 6.
• Type I: The cleft is confined to the area above the vocal cords (interarytenoid region). It is the most frequently diagnosed type and is often associated with aspiration, chronic cough, and feeding difficulties 1 3 5 6 12.
• Type II: The cleft extends below the vocal cords into the cricoid cartilage. Symptoms are usually more severe, with frequent aspiration and respiratory distress 1 2 6.
• Type III: Here, the cleft continues further down into the cervical trachea. This type presents with severe, sometimes life-threatening, airway and feeding problems 1 2 6.
• Type IV: The rarest and most severe type, extending into the thoracic trachea. Infants often present with profound respiratory distress and high mortality if not promptly managed 2 6.

Associated Anomalies

Laryngeal clefts are often found alongside other congenital anomalies—such as esophageal atresia, tracheoesophageal fistula, congenital heart defects, and syndromes like VACTERL, CHARGE, Opitz/BBB, and Pallister Hall 1 2 7 9. Recognizing these associations is vital for comprehensive care.

Causes of Laryngeal Cleft

The underlying causes of laryngeal cleft are rooted in embryological development, though much remains to be discovered about the precise mechanisms.

Cause	Description	Notes/Prevalence	Source(s)
Developmental	Failure of posterior cricoid lamina fusion	Main cause; during fetal development	2 7 8
Genetic/Syndromic	Part of recognized syndromes	VACTERL, CHARGE, Opitz, Pallister Hall	1 2 7 9
Familial cases	Possible autosomal dominant transmission	Rare, mostly sporadic	2 9
Multifactorial	Genetic + Environmental influences	Exact factors unknown	2 9

Table 3: Causes of Laryngeal Cleft

Embryological Origins

Laryngeal cleft results from a failure of the posterior cricoid lamina to fuse and from abnormal development of the tracheoesophageal septum during the early weeks of gestation 2 7 8. This failure leads to an abnormal communication between the larynx and the esophagus/trachea.

Genetic and Syndromic Factors

While most laryngeal clefts appear sporadically, some are associated with recognized genetic syndromes:

• VACTERL/VATER association: Includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies.
• CHARGE syndrome: Coloboma, heart defects, choanal atresia, growth retardation, genital and ear anomalies.
• Opitz/BBB and Pallister Hall syndromes: Feature laryngeal cleft as part of a broader spectrum of anomalies 1 2 7 9.

Familial cases suggest a possible autosomal dominant inheritance, but this is rare and not consistent for all patients 2 9.

Multifactorial Nature

The precise cause is likely multifactorial, involving both genetic predisposition and environmental factors, though definitive environmental triggers have not been identified 2 9. No specific geographic or ethnic predilection is reported 2.

Treatment of Laryngeal Cleft

Effective management of laryngeal cleft depends on the type, severity, and the presence of associated anomalies. Treatment may range from conservative measures to surgical intervention.

Treatment	Indication/Type	Success/Notes	Source(s)
Conservative (Medical)	Type 0/I, mild symptoms	Up to 52% success in Type I	3 12
Injection Laryngoplasty	Type I, diagnostic/therapeutic	36-56% success, often temporary	5 11 12
Endoscopic Surgery	Type I (if refractory), II/III	70-94% success in symptom resolution	1 3 5 10 12 13
Open Surgical Repair	Types II-IV, severe cases	Necessary for advanced clefts	1 2 10 13
Tracheostomy	Severe airway compromise	Especially for Types III-IV	10
Supportive Care	All types	Nutrition, aspiration prevention	1 2 3

Table 4: Treatment Options

Conservative Therapy

• Diet Modifications: Thickened feeds, upright positioning, and swallowing therapy are initial strategies for mild (Type I) clefts 3 12.
• Success Rates: About half of patients with Type I clefts improve with these measures alone, especially if symptoms are mild 3 12.

Injection Laryngoplasty

• Procedure: A temporary filler is injected into the interarytenoid region to reduce aspiration and aid diagnosis 5 11.
• Effectiveness: Around 36–56% of patients experience improvement, but effects are often temporary and may require repeat procedures or definitive surgery 5 11 12.

Surgical Management

• Endoscopic Repair: Minimally invasive surgery using endoscopic tools or lasers is preferred for Type I (if conservative therapy fails) and some Type II clefts. Success rates are high, with up to 94% symptom resolution in some studies 1 3 5 10 12 13.
• Open Surgical Repair: Required for more extensive clefts (Types II-IV) that cannot be managed endoscopically. This approach is more invasive but essential for preventing life-threatening complications 1 2 10 13.
• Tracheostomy: Sometimes needed in severe cases to secure the airway, especially prior to or after surgery for Types III and IV 10.

Supportive and Multidisciplinary Care

• Preventing Aspiration: Measures to protect the airway and prevent lung infections are vital.
• Nutritional Support: May include feeding tubes or gastrostomy in severe cases until the cleft is corrected 1 2 3.
• Monitoring and Follow-up: Regular assessments are crucial due to the risk of recurrence or persistent symptoms.

Prognosis

Outcomes depend on the severity of the cleft, promptness of diagnosis, and associated anomalies. Early intervention significantly improves both survival and quality of life 2 12.

Conclusion

Laryngeal cleft is a rare but serious cause of respiratory and feeding difficulties in infants and children. Due to its variable presentation and overlapping symptoms with other conditions, a high level of clinical suspicion and specialized diagnostic evaluation are critical. The classification of laryngeal clefts guides both prognosis and treatment, with options ranging from conservative therapy to advanced surgical repair.

Key Points:

• Laryngeal cleft most often presents with aspiration, feeding difficulties, and recurrent respiratory issues.
• The condition is classified by the extent of the abnormal opening, ranging from mild (Type 0/I) to severe (Type IV).
• Causes are rooted in embryological development, with both genetic and multifactorial influences.
• Treatment depends on severity; conservative therapy is often tried first, with surgical options reserved for persistent or severe cases.
• Early diagnosis and intervention are vital for optimizing outcomes and preventing complications.

By recognizing and understanding laryngeal cleft, clinicians and families can work together for timely care and improved quality of life for affected children.