Overview
Orofaciodigital syndrome type 8 (OFD8), also known as Edwards syndrome or Orofaciodigital syndrome type VIII, is an extremely rare genetic condition that affects the mouth (oral), face (facial), and fingers and toes (digital). It belongs to a larger group of conditions called orofaciodigital syndromes, of which there are multiple types. OFD8 is specifically characterized by abnormalities of the tongue, teeth, and other structures in the mouth, along with facial differences and extra fingers or toes (polydactyly). Some individuals may also have tibial abnormalities, meaning the shinbone may be shortened or underdeveloped. Intellectual disability has been reported in some cases but is not always present. Because OFD8 is so rare, with only a handful of cases described in the medical literature, our understanding of the full range of symptoms and the best approaches to treatment is still limited. There is currently no cure for OFD8. Treatment focuses on managing individual symptoms, which may include surgery to correct extra digits, dental care for oral abnormalities, and supportive therapies such as speech therapy or physical therapy. A team of specialists is usually needed to provide comprehensive care. Early diagnosis and intervention can help improve quality of life for affected individuals and their families.
Also known as:
Key symptoms:
Extra fingers or toes (polydactyly)Abnormalities of the tongue, such as lobulated or split tongueDental abnormalities including missing or extra teethCleft lip or cleft palateShort or underdeveloped shinbone (tibial deficiency)Facial asymmetry or unusual facial featuresSmall jaw (micrognathia)Widely spaced eyesShort statureIntellectual disability in some casesSpeech difficultiesHearing problemsAbnormal frenula (small folds of tissue in the mouth)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Orofaciodigital syndrome type 8.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Orofaciodigital syndrome type 8 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Orofaciodigital syndrome type 8.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Orofaciodigital syndrome type 8.
Community
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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.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific features of OFD8 does my child have, and how severe are they?,Is genetic testing available to confirm the diagnosis and identify the exact cause?,What surgeries or procedures will my child need, and when should they be done?,Will my child need speech therapy, physical therapy, or other supportive services?,What is the chance of having another child with this condition?,Are there any clinical studies or research programs we could participate in?,How often should my child be seen by each specialist?
Common questions about Orofaciodigital syndrome type 8
What is Orofaciodigital syndrome type 8?
Orofaciodigital syndrome type 8 (OFD8), also known as Edwards syndrome or Orofaciodigital syndrome type VIII, is an extremely rare genetic condition that affects the mouth (oral), face (facial), and fingers and toes (digital). It belongs to a larger group of conditions called orofaciodigital syndromes, of which there are multiple types. OFD8 is specifically characterized by abnormalities of the tongue, teeth, and other structures in the mouth, along with facial differences and extra fingers or toes (polydactyly). Some individuals may also have tibial abnormalities, meaning the shinbone may be
How is Orofaciodigital syndrome type 8 inherited?
Orofaciodigital syndrome type 8 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Orofaciodigital syndrome type 8 typically begin?
Typical onset of Orofaciodigital syndrome type 8 is neonatal. Age of onset can vary across affected individuals.