Congenital laryngeal cyst

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ORPHA:141124Q31.8
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Overview

Congenital laryngeal cyst is a rare developmental anomaly of the larynx in which a fluid-filled cystic lesion is present at birth within or adjacent to the laryngeal structures. These cysts are classified under congenital malformations of the larynx (ICD-10: Q31.8) and may arise from various laryngeal tissues, including the epiglottis, aryepiglottic folds, vallecular region, or the ventricles of the larynx. They are thought to result from obstruction or abnormal development of mucous glands or embryonic remnants during fetal development. The primary body system affected is the respiratory system, specifically the upper airway. Congenital laryngeal cysts can cause significant airway obstruction in neonates and young infants, leading to symptoms such as stridor (noisy breathing), respiratory distress, feeding difficulties, weak or muffled cry, and in severe cases, life-threatening airway compromise. The severity of symptoms depends on the size and location of the cyst. Smaller cysts may remain asymptomatic and be discovered incidentally, while larger cysts can present as a neonatal emergency requiring urgent intervention. Diagnosis is typically made through direct laryngoscopy or flexible nasopharyngoscopy, often supplemented by imaging studies such as CT or MRI. Treatment is primarily surgical and involves endoscopic marsupialization (opening and draining the cyst) or complete excision, usually performed via microlaryngoscopy. In emergency situations, needle aspiration may be used as a temporizing measure to relieve acute airway obstruction. The prognosis is generally excellent following successful surgical removal, though recurrence is possible, particularly with incomplete excision. Long-term follow-up is recommended to monitor for cyst recurrence and to ensure normal laryngeal function and airway patency.

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital laryngeal cyst.

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No actively recruiting trials found for Congenital laryngeal cyst at this time.

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No specialists are currently listed for Congenital laryngeal cyst.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Congenital laryngeal cyst.

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Community

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Common questions about Congenital laryngeal cyst

What is Congenital laryngeal cyst?

Congenital laryngeal cyst is a rare developmental anomaly of the larynx in which a fluid-filled cystic lesion is present at birth within or adjacent to the laryngeal structures. These cysts are classified under congenital malformations of the larynx (ICD-10: Q31.8) and may arise from various laryngeal tissues, including the epiglottis, aryepiglottic folds, vallecular region, or the ventricles of the larynx. They are thought to result from obstruction or abnormal development of mucous glands or embryonic remnants during fetal development. The primary body system affected is the respiratory sys

How is Congenital laryngeal cyst inherited?

Congenital laryngeal cyst follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Congenital laryngeal cyst typically begin?

Typical onset of Congenital laryngeal cyst is neonatal. Age of onset can vary across affected individuals.