Cleft lip and alveolus

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ORPHA:141291OMIM:129400Q36.0Q36.1Q36.9
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2Specialists8Treatment centers

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Overview

Cleft lip and alveolus is a congenital craniofacial malformation characterized by a gap or split in the upper lip that extends into the alveolar ridge (the bony ridge of the upper jaw that contains the tooth sockets). This condition occurs when the tissues of the face do not fully fuse during early embryonic development, typically between the 4th and 7th weeks of gestation. It may be unilateral (affecting one side) or bilateral (affecting both sides), and can be complete (extending fully through the lip and alveolus) or incomplete. Cleft lip and alveolus differs from cleft lip and palate in that the palate itself remains intact. The condition primarily affects the orofacial structures, including the upper lip, the nose, and the alveolar bone of the upper jaw. Key clinical features include a visible gap in the upper lip, nasal asymmetry (particularly in unilateral cases), dental anomalies such as missing, malformed, or supernumerary teeth in the cleft area, and potential difficulties with feeding in the neonatal period. Speech development may also be affected, though typically less severely than in cases involving palatal clefts. The alveolar involvement can lead to disruption of the dental arch and affect the eruption pattern of both primary and permanent teeth. Treatment is primarily surgical and typically involves a multidisciplinary team approach. Initial lip repair (cheiloplasty) is usually performed within the first few months of life, often around 3 to 6 months of age. Nasoalveolar molding may be used preoperatively to improve alignment of the lip and nasal structures. Alveolar bone grafting, typically using cancellous bone from the iliac crest, is generally performed later in childhood (around 8 to 11 years of age) to restore the continuity of the dental arch and support permanent tooth eruption. Orthodontic treatment is commonly required, and some patients may need secondary surgical revisions for optimal aesthetic and functional outcomes. With appropriate multidisciplinary care, outcomes are generally very favorable.

Clinical phenotype terms— hover any for plain English:

Lip pitHP:0100267Abnormal pattern of respirationHP:0002793Abnormal nasal morphologyHP:0005105Impaired masticationHP:0005216Disturbance of facial expressionHP:0005324Abnormality of masticatory muscleHP:0410011Abnormal nasal septum morphologyHP:0000419
Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Cleft lip and alveolus.

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No actively recruiting trials found for Cleft lip and alveolus at this time.

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Specialists

2 foundView all specialists →
PM
Pangyun Chou, MD
Specialist
PI on 1 active trial
PD
P A Rodrigues, Doctor
Specialist
PI on 1 active trial7 Cleft lip and alveolus publications

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 Cleft lip and alveolus.

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Community

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Caregiver Resources

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Common questions about Cleft lip and alveolus

What is Cleft lip and alveolus?

Cleft lip and alveolus is a congenital craniofacial malformation characterized by a gap or split in the upper lip that extends into the alveolar ridge (the bony ridge of the upper jaw that contains the tooth sockets). This condition occurs when the tissues of the face do not fully fuse during early embryonic development, typically between the 4th and 7th weeks of gestation. It may be unilateral (affecting one side) or bilateral (affecting both sides), and can be complete (extending fully through the lip and alveolus) or incomplete. Cleft lip and alveolus differs from cleft lip and palate in th

How is Cleft lip and alveolus inherited?

Cleft lip and alveolus follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Cleft lip and alveolus typically begin?

Typical onset of Cleft lip and alveolus is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Cleft lip and alveolus?

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