Second branchial cleft anomaly

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ORPHA:141022OMIM:113600Q18.0
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Overview

Second branchial cleft anomaly (also known as second branchial cleft cyst, sinus, or fistula) is a congenital malformation arising from incomplete obliteration of the second branchial cleft (also called the second pharyngeal cleft) during embryonic development. These anomalies are the most common type of branchial cleft malformation, accounting for approximately 90-95% of all branchial anomalies. They primarily affect the head and neck region and may present as a cyst (a closed, fluid-filled sac), a sinus (a blind-ending tract opening to the skin surface), or a fistula (a complete tract connecting the skin surface to the pharynx, typically opening internally at the tonsillar fossa). Clinically, second branchial cleft anomalies typically present as a painless, smooth, fluctuant mass along the anterior border of the sternocleidomastoid muscle in the lateral neck, most commonly in the upper to middle third. A sinus or fistula may present as a small opening on the skin of the lower lateral neck from which mucoid fluid may drain. These anomalies are present from birth but may not become clinically apparent until childhood or even adulthood, often following an upper respiratory tract infection that causes the lesion to enlarge or become infected. When infected, the mass becomes tender, erythematous, and swollen, and may form an abscess. Treatment is primarily surgical, with complete surgical excision being the standard of care to prevent recurrent infections and potential complications. Surgery is ideally performed when the lesion is not actively infected. If infection is present, initial management includes antibiotics and, if necessary, incision and drainage, followed by definitive surgical excision once the acute inflammation has resolved. Recurrence rates after complete excision are low but increase if the anomaly has been previously infected or incompletely removed. There is no medical therapy that can resolve these anomalies without surgery.

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Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Second branchial cleft anomaly.

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No actively recruiting trials found for Second branchial cleft anomaly at this time.

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No specialists are currently listed for Second branchial cleft anomaly.

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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

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Community

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Common questions about Second branchial cleft anomaly

What is Second branchial cleft anomaly?

Second branchial cleft anomaly (also known as second branchial cleft cyst, sinus, or fistula) is a congenital malformation arising from incomplete obliteration of the second branchial cleft (also called the second pharyngeal cleft) during embryonic development. These anomalies are the most common type of branchial cleft malformation, accounting for approximately 90-95% of all branchial anomalies. They primarily affect the head and neck region and may present as a cyst (a closed, fluid-filled sac), a sinus (a blind-ending tract opening to the skin surface), or a fistula (a complete tract connec

How is Second branchial cleft anomaly inherited?

Second branchial cleft anomaly follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.