Genetic facial cleft

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:414726
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

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

Overview

Genetic facial cleft is a rare birth difference where a gap or split forms in the face during early development in the womb. The face normally forms when several tissue sections grow together and fuse between weeks 4 and 10 of pregnancy. When this process does not complete properly, a cleft — meaning an opening or gap — can remain. Unlike the more common cleft lip and palate, genetic facial clefts can affect other parts of the face, including the cheek, nose, eyelid, or forehead. These are sometimes called 'rare facial clefts,' 'atypical facial clefts,' or 'Tessier clefts,' after the surgeon who created a widely used classification system numbering them 0 through 14. The condition can range from a very mild notch in the lip or eyelid to a more significant opening that affects eating, breathing, vision, hearing, or speech. Some people have only a facial cleft, while others may have additional differences in the skull, brain, or other parts of the body. The severity and location of the cleft determine which body systems are affected. Treatment is focused on surgery to close the cleft and restore normal function and appearance. A team of specialists — including surgeons, speech therapists, and other experts — typically works together over many years to support the child's development. With good care, many people with genetic facial clefts lead full and healthy lives, though multiple surgeries and ongoing support may be needed.

Also known as:

Key symptoms:

A visible gap, split, or groove on the face — may affect the lip, cheek, nose, eyelid, or foreheadDifficulty feeding or sucking as a newbornProblems with speech or making certain soundsDental problems, including missing or misaligned teethHearing difficulties, especially if the ear or ear canal is affectedVision problems if the cleft involves the eyelid or eye socketBreathing difficulties in severe casesDifferences in the shape of the nose or nostrilsAsymmetry of the faceScarring or skin differences along the cleft lineIn some cases, differences in skull or brain development

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 Genetic facial cleft.

View clinical trials →

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

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Genetic facial cleft community →

No specialists are currently listed for Genetic facial cleft.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Genetic facial cleft.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Genetic facial cleftForum →

No community posts yet. Be the first to share your experience with Genetic facial cleft.

Start the conversation →

Latest news about Genetic facial cleft

No recent news articles for Genetic facial cleft.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What type of facial cleft does my child have, and what parts of the face or body are affected?,Should we do genetic testing, and what might it tell us about the cause and recurrence risk?,What does the surgical plan look like, and how many operations might be needed over time?,Which specialists should be part of our care team, and how do we coordinate between them?,What early therapies — such as speech or feeding support — should we start right away?,Are there any risks to future pregnancies, and should other family members be tested?,What support resources or patient organizations are available for our family?

Common questions about Genetic facial cleft

What is Genetic facial cleft?

Genetic facial cleft is a rare birth difference where a gap or split forms in the face during early development in the womb. The face normally forms when several tissue sections grow together and fuse between weeks 4 and 10 of pregnancy. When this process does not complete properly, a cleft — meaning an opening or gap — can remain. Unlike the more common cleft lip and palate, genetic facial clefts can affect other parts of the face, including the cheek, nose, eyelid, or forehead. These are sometimes called 'rare facial clefts,' 'atypical facial clefts,' or 'Tessier clefts,' after the surgeon w

At what age does Genetic facial cleft typically begin?

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