Facial cleft

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ORPHA:141229
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13Specialists8Treatment centers

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

Facial cleft is a broad term encompassing a group of rare congenital malformations characterized by abnormal fissures or gaps in the structures of the face. These clefts result from failure of fusion of the facial processes during embryonic development, typically between the 4th and 8th weeks of gestation. Facial clefts can range from common orofacial clefts (cleft lip and/or cleft palate) to rare oblique, lateral, or median facial clefts. The Tessier classification system is commonly used to categorize these clefts numerically (0–14) based on their anatomical location, involving soft tissue and underlying bony structures. Facial clefts affect multiple structures of the face and skull, including the lips, palate, nose, orbits, cheeks, and forehead. Key clinical features depend on the type and severity of the cleft and may include visible gaps or fissures in facial soft tissues, bony defects of the maxilla, mandible, or orbital bones, nasal deformities, orbital dystopia (abnormal positioning of the eyes), and dental anomalies. Feeding difficulties, speech impairment, hearing problems, and psychosocial challenges are common functional consequences. Some facial clefts occur as isolated malformations, while others may be part of broader syndromic conditions involving additional organ systems. The etiology of facial clefts is considered multifactorial in most cases, involving a combination of genetic susceptibility and environmental factors such as maternal nutrition, medication exposure, and other teratogens. Treatment is primarily surgical and often requires a multidisciplinary team approach including craniofacial surgeons, orthodontists, speech therapists, audiologists, and psychologists. Multiple staged surgical procedures may be necessary over the course of childhood and adolescence to reconstruct affected structures and optimize functional and aesthetic outcomes. Supportive therapies for feeding, speech, and hearing are integral components of comprehensive care.

Also known as:

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 ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Facial cleft.

View clinical trials →

No actively recruiting trials found for Facial cleft at this time.

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

Search ClinicalTrials.gov ↗Join the Facial cleft community →

Specialists

13 foundView all specialists →
WP
William N Williams, Ph.D
Specialist
PI on 1 active trial
NP
Nivaldo Alonso, PH.D
Specialist
PI on 1 active trial
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
BB
Barbara B Biesecker
CLARKS SUMMIT, PA
Specialist
PI on 16 active trials
MP
Mark Sun, PhD
COON RAPIDS, MN
Specialist
PI on 1 active trial
LD
LIAN ZHOU, D.D.S
Specialist
PI on 2 active trials
KD
Karin Strobel, Dr.
Specialist
PI on 1 active trial
CD
Corinna Seidel, Dr.
Specialist
PI on 1 active trial
LD
Lina Gölz, Prof. Dr.
Specialist
PI on 1 active trial
CM
Carroll-Ann Trotman, BDS, MA, MS
Specialist
PI on 1 active trial
MM
Massimo Cordaro, Medicine
Specialist
PI on 1 active trial
HM
Hori Hariyanto, MD
Specialist
PI on 1 active trial

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 Facial cleft.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Facial cleft

No recent news articles for Facial cleft.

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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.

Common questions about Facial cleft

What is Facial cleft?

Facial cleft is a broad term encompassing a group of rare congenital malformations characterized by abnormal fissures or gaps in the structures of the face. These clefts result from failure of fusion of the facial processes during embryonic development, typically between the 4th and 8th weeks of gestation. Facial clefts can range from common orofacial clefts (cleft lip and/or cleft palate) to rare oblique, lateral, or median facial clefts. The Tessier classification system is commonly used to categorize these clefts numerically (0–14) based on their anatomical location, involving soft tissue a

How is Facial cleft inherited?

Facial cleft follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Facial cleft typically begin?

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

Which specialists treat Facial cleft?

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