Median facial cleft

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Overview

Median facial cleft, also known as midline facial cleft or median cleft face, is a rare congenital craniofacial malformation resulting from failure of the midline facial structures to fuse properly during embryonic development. This condition falls within the spectrum of facial clefting disorders and specifically involves the central structures of the face. It can range in severity from a subtle midline notch of the upper lip or nose to a severe cleft extending through the nose, upper lip, premaxilla, and even the forehead, sometimes involving the frontal bone and underlying brain structures. The condition affects the craniofacial system and may involve the nose (bifid nose or broad nasal bridge), upper lip (midline cleft lip), palate, and in severe cases the orbits (orbital hypertelorism) and cranium. Associated features can include a broad or flattened nasal tip, median cleft of the upper lip, frontonasal dysplasia, and in some cases encephalocele or other central nervous system anomalies. The severity is highly variable, and the condition may occur as an isolated malformation or as part of a broader syndrome such as frontonasal dysplasia or other midline developmental field defects. Management of median facial cleft is primarily surgical and typically involves a multidisciplinary team including craniofacial surgeons, plastic surgeons, otolaryngologists, orthodontists, speech therapists, and geneticists. Surgical reconstruction is tailored to the severity of the defect and may require staged procedures over childhood to address the lip, nose, palate, and orbital structures. Early genetic evaluation is recommended to identify any associated syndromic conditions. Outcomes depend on the extent of the malformation and the presence of associated anomalies, particularly those involving the central nervous system.

Also known as:

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

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 facial cleft.

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No actively recruiting trials found for Median facial cleft at this time.

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No specialists are currently listed for Median facial cleft.

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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 facial cleft.

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Community

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Common questions about Median facial cleft

What is Median facial cleft?

Median facial cleft, also known as midline facial cleft or median cleft face, is a rare congenital craniofacial malformation resulting from failure of the midline facial structures to fuse properly during embryonic development. This condition falls within the spectrum of facial clefting disorders and specifically involves the central structures of the face. It can range in severity from a subtle midline notch of the upper lip or nose to a severe cleft extending through the nose, upper lip, premaxilla, and even the forehead, sometimes involving the frontal bone and underlying brain structures.

At what age does Median facial cleft typically begin?

Typical onset of Median facial cleft is neonatal. Age of onset can vary across affected individuals.