Overview
Orofaciodigital syndrome type 18 (OFD18) is a very rare genetic condition that affects the development of the face, mouth, and fingers or toes before birth. Like other orofaciodigital syndromes, it causes a combination of problems in three main areas: the mouth (oro), the face (facio), and the digits — meaning fingers and toes (digital). Features can include unusual splits or gaps in the tongue, extra or fused fingers or toes, and differences in facial structure. Some individuals may also have brain differences that can affect learning and development. This condition belongs to a family of more than 20 related syndromes that share overlapping features but are caused by changes in different genes. OFD18 specifically is linked to changes in the TTLL10 gene, which plays a role in how cells build and maintain tiny internal structures called cilia. When cilia do not work properly, it can disrupt normal development in many parts of the body. Because OFD18 is extremely rare and only recently described, the full range of symptoms and the best ways to manage them are still being studied. Treatment is currently focused on managing individual symptoms — for example, surgery to correct mouth or hand differences, and therapy to support learning and development. There is no cure at this time. A team of specialists working together gives patients the best chance at a good quality of life.
Also known as:
Key symptoms:
Cleft or split tongue (tongue with an unusual groove or division)Extra fingers or toes (polydactyly)Fused or webbed fingers or toes (syndactyly)Short or unusually shaped fingers or toesDifferences in facial structure or appearanceCleft lip or palate (gap in the lip or roof of the mouth)Intellectual disability or learning difficultiesBrain structural differences (such as abnormal brain development)Dental problems, including extra or missing teethDifferences in the shape or size of the jaw or nose
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 18.
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Specialists
View all specialists →No specialists are currently listed for Orofaciodigital syndrome type 18.
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 18.
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.Which specific features of OFD18 does my child have, and how severe are they?,What genetic testing is recommended, and should other family members be tested?,What surgeries might my child need, and when is the best time to do them?,What therapies — such as speech or occupational therapy — should we start, and how soon?,Are there any brain differences we should monitor, and what signs should prompt an urgent visit?,Are there any clinical trials or research studies we could participate in?,What support resources or patient groups are available for families affected by orofaciodigital syndromes?
Common questions about Orofaciodigital syndrome type 18
What is Orofaciodigital syndrome type 18?
Orofaciodigital syndrome type 18 (OFD18) is a very rare genetic condition that affects the development of the face, mouth, and fingers or toes before birth. Like other orofaciodigital syndromes, it causes a combination of problems in three main areas: the mouth (oro), the face (facio), and the digits — meaning fingers and toes (digital). Features can include unusual splits or gaps in the tongue, extra or fused fingers or toes, and differences in facial structure. Some individuals may also have brain differences that can affect learning and development. This condition belongs to a family of mo
How is Orofaciodigital syndrome type 18 inherited?
Orofaciodigital syndrome type 18 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Orofaciodigital syndrome type 18 typically begin?
Typical onset of Orofaciodigital syndrome type 18 is neonatal. Age of onset can vary across affected individuals.