Median cleft lip/mandible

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Overview

Median cleft lip with mandible cleft (also known as median cleft of the lower lip and mandible, or midline cleft of the lower lip and jaw) is an extremely rare congenital craniofacial malformation characterized by a vertical cleft occurring in the midline of the lower lip, which may extend through the chin and mandible (lower jaw). This condition results from a failure of fusion of the paired mandibular prominences during early embryonic development. The cleft can vary in severity from a minor notch in the lower lip vermilion to a complete cleft extending through the lower lip, chin soft tissues, mandibular bone, and occasionally involving the tongue and floor of the mouth. In some cases, it may be associated with other midline defects including ankyloglossia (tongue-tie), cleft of the tongue, or defects of the anterior neck structures. The condition primarily affects the craniofacial system, specifically the lower face and jaw structures. Associated features may include bifid tongue, submental skin deficiency, and in severe cases, involvement of midline cervical structures. The condition is typically apparent at birth. Treatment is surgical and involves reconstruction of the affected structures, including repair of the lip, soft tissues, and mandibular bone as needed. Surgical management is generally planned based on the severity of the cleft and may require a multidisciplinary approach involving craniofacial surgeons, oral and maxillofacial surgeons, and speech therapists. Outcomes following surgical repair are generally favorable, particularly in isolated cases without associated systemic anomalies. The condition is distinct from the more common lateral cleft lip and should be differentiated from other midline facial clefting syndromes.

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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 Median cleft lip/mandible.

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No actively recruiting trials found for Median cleft lip/mandible at this time.

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No specialists are currently listed for Median cleft lip/mandible.

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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 Median cleft lip/mandible.

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Community

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Common questions about Median cleft lip/mandible

What is Median cleft lip/mandible?

Median cleft lip with mandible cleft (also known as median cleft of the lower lip and mandible, or midline cleft of the lower lip and jaw) is an extremely rare congenital craniofacial malformation characterized by a vertical cleft occurring in the midline of the lower lip, which may extend through the chin and mandible (lower jaw). This condition results from a failure of fusion of the paired mandibular prominences during early embryonic development. The cleft can vary in severity from a minor notch in the lower lip vermilion to a complete cleft extending through the lower lip, chin soft tissu

How is Median cleft lip/mandible inherited?

Median cleft lip/mandible follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Median cleft lip/mandible typically begin?

Typical onset of Median cleft lip/mandible is neonatal. Age of onset can vary across affected individuals.