Midline cervical cleft

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ORPHA:141288Q18.8
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2Specialists8Treatment centers

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Overview

Midline cervical cleft (MCC), also known as congenital midline cervical cleft, is a rare congenital anomaly of the anterior neck. It is present at birth and results from a failure of fusion of the branchial arches during embryonic development. The condition manifests as a vertical, skin-deficient defect along the midline of the anterior neck, typically extending from the chin (submental region) toward the sternal notch. The cleft is characterized by a nipple-like skin projection (skin tag) at its superior end, a sinus tract or blind-ending fistula at its inferior end, and an atrophic, erythematous midline skin defect between these two landmarks. A subcutaneous fibrous cord may also be present beneath the cleft, which can cause contracture and restrict neck extension if left untreated. Midline cervical cleft primarily affects the skin and subcutaneous tissues of the anterior neck. While it is generally an isolated anomaly, it can occasionally be associated with other branchial arch anomalies. The condition does not typically affect internal organs but can lead to functional and cosmetic concerns. The fibrous cord beneath the defect may progressively limit neck movement and contribute to mandibular growth disturbances if surgical correction is delayed. Treatment is surgical and is recommended early in life, ideally within the first few months to years, to prevent contracture formation and optimize cosmetic outcomes. The procedure involves complete excision of the cleft, including the skin tag, sinus tract, and fibrous cord, followed by reconstruction using Z-plasty or similar techniques to minimize scarring and prevent recurrence of contracture. Surgical outcomes are generally excellent, and recurrence is uncommon when the lesion is completely excised. There is no medical or pharmacological treatment for this condition.

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 Midline cervical cleft.

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No actively recruiting trials found for Midline cervical cleft at this time.

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Specialists

2 foundView all specialists →
SM
Shivaani Kummar, MD
PORTLAND, OR
Specialist
PI on 5 active trials
SM
Scot C. Remick, MD
SCARBOROUGH, ME
Specialist
PI on 9 active trials

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 Midline cervical cleft.

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Community

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Latest news about Midline cervical cleft

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Caregiver Resources

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Social Security Disability

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Common questions about Midline cervical cleft

What is Midline cervical cleft?

Midline cervical cleft (MCC), also known as congenital midline cervical cleft, is a rare congenital anomaly of the anterior neck. It is present at birth and results from a failure of fusion of the branchial arches during embryonic development. The condition manifests as a vertical, skin-deficient defect along the midline of the anterior neck, typically extending from the chin (submental region) toward the sternal notch. The cleft is characterized by a nipple-like skin projection (skin tag) at its superior end, a sinus tract or blind-ending fistula at its inferior end, and an atrophic, erythema

How is Midline cervical cleft inherited?

Midline cervical cleft follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Midline cervical cleft typically begin?

Typical onset of Midline cervical cleft is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Midline cervical cleft?

2 specialists and care centers treating Midline cervical cleft are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.