Lateral facial cleft

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ORPHA:141269
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3Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Lateral facial cleft, also known as transverse facial cleft or macrostomia, is a rare congenital craniofacial malformation resulting from failure of fusion of the maxillary and mandibular prominences (the first branchial arch derivatives) during embryonic development. This condition corresponds to Tessier cleft number 7 in the Tessier classification system of craniofacial clefts. It presents at birth as a widening of the oral commissure (corner of the mouth) extending laterally toward the ear, which may be unilateral or bilateral. The severity ranges from a minor widening of the mouth (incomplete form) to a cleft extending to the tragus of the ear (complete form). The condition primarily affects the facial soft tissues, including the skin, subcutaneous tissue, and orbicularis oris muscle, and in more severe cases may involve the underlying bony structures of the maxilla and mandible. Key clinical features include macrostomia (abnormally wide mouth), disruption of the oral commissure, and potential involvement of the parotid duct and facial nerve branches. Associated anomalies may include preauricular skin tags, accessory tragus, mandibular hypoplasia, and ear malformations. Lateral facial cleft can occur as an isolated anomaly or as part of broader syndromic conditions such as hemifacial microsomia (oculo-auriculo-vertebral spectrum) or Treacher Collins syndrome. Treatment is primarily surgical, with the goal of reconstructing the oral commissure to restore normal facial appearance and function, including proper oral competence for feeding and speech. Surgical repair typically involves commissuroplasty, which includes careful reconstruction of the orbicularis oris muscle to create a functional and aesthetically acceptable oral commissure. The timing of surgery is generally in infancy or early childhood. A multidisciplinary approach involving craniofacial surgeons, speech therapists, and orthodontists may be necessary, particularly when the cleft is part of a syndromic presentation.

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 Lateral facial cleft.

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

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Specialists

3 foundView all specialists →
MP
Matthew L Speltz, PhD
SEATTLE, WA
Specialist
PI on 1 active trial
CM
Carrie L Heike, MD, MS
SEATTLE, WA
Specialist
PI on 1 active trial
LD
LIAN ZHOU, D.D.S
Specialist
PI on 2 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 Lateral facial cleft.

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Community

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Latest news about Lateral facial cleft

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Caregiver Resources

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Common questions about Lateral facial cleft

What is Lateral facial cleft?

Lateral facial cleft, also known as transverse facial cleft or macrostomia, is a rare congenital craniofacial malformation resulting from failure of fusion of the maxillary and mandibular prominences (the first branchial arch derivatives) during embryonic development. This condition corresponds to Tessier cleft number 7 in the Tessier classification system of craniofacial clefts. It presents at birth as a widening of the oral commissure (corner of the mouth) extending laterally toward the ear, which may be unilateral or bilateral. The severity ranges from a minor widening of the mouth (incompl

At what age does Lateral facial cleft typically begin?

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

Which specialists treat Lateral facial cleft?

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