Overview
Orofaciodigital syndrome type 11 (OFD11), also known as orofaciodigital syndrome type XI or Gabrielli syndrome, is an extremely rare genetic condition that affects the development of the mouth (oral), face (facial), and fingers and toes (digital). This syndrome belongs to a larger group of orofaciodigital syndromes, which share overlapping features but have distinct characteristics. People with OFD11 may have abnormalities of the mouth such as a cleft palate or tongue abnormalities, unusual facial features, and extra fingers or toes (polydactyly) or other hand and foot differences. Some individuals may also experience intellectual disability and other developmental challenges. The condition is present from birth and is typically recognized in the newborn period or early infancy based on the combination of physical features. Because OFD11 is so rare, with only a handful of cases described in the medical literature, there is no specific cure or targeted treatment. Management focuses on addressing individual symptoms, which may include surgery for cleft palate or extra digits, speech therapy, developmental support, and regular monitoring by a team of specialists. Research into the genetic causes and potential treatments is ongoing but limited by the rarity of the condition.
Also known as:
Key symptoms:
Extra fingers or toes (polydactyly)Cleft palate or cleft lipTongue abnormalities such as lumps or clefts on the tongueUnusual facial featuresIntellectual disabilityDevelopmental delaysHearing lossWidely spaced eyesFlat nasal bridgeShort statureAbnormalities of the teethFused or webbed fingers or toes
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 11.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Orofaciodigital syndrome type 11.
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 11.
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 OFD11 does my child have, and how severe are they?,Is genetic testing recommended for our family, and what would the results mean?,What surgeries or procedures will my child need, and when should they happen?,What developmental milestones should I watch for, and when should I be concerned?,What therapies (speech, occupational, physical) should we start, and how soon?,Are there any other organs or systems we should monitor over time?,Can you connect us with other families or support groups for orofaciodigital syndromes?
Common questions about Orofaciodigital syndrome type 11
What is Orofaciodigital syndrome type 11?
Orofaciodigital syndrome type 11 (OFD11), also known as orofaciodigital syndrome type XI or Gabrielli syndrome, is an extremely rare genetic condition that affects the development of the mouth (oral), face (facial), and fingers and toes (digital). This syndrome belongs to a larger group of orofaciodigital syndromes, which share overlapping features but have distinct characteristics. People with OFD11 may have abnormalities of the mouth such as a cleft palate or tongue abnormalities, unusual facial features, and extra fingers or toes (polydactyly) or other hand and foot differences. Some indiv
How is Orofaciodigital syndrome type 11 inherited?
Orofaciodigital syndrome type 11 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Orofaciodigital syndrome type 11 typically begin?
Typical onset of Orofaciodigital syndrome type 11 is neonatal. Age of onset can vary across affected individuals.