Overview
Orofaciodigital syndrome type 10 (OFD10), also known as Figuera syndrome or orofaciodigital syndrome with fibular aplasia, is an extremely rare genetic condition that affects the development of the mouth (oral), face (facial), and fingers and toes (digital). This specific subtype has been classified as 'obsolete' in some medical databases, meaning it may now be grouped under a broader category of orofaciodigital syndromes or reclassified based on newer genetic understanding. The condition was originally described in a very small number of patients and is characterized by features such as cleft lip or palate, abnormalities of the tongue, facial asymmetry, and malformations of the fingers and toes including shortening or absence of certain bones. Some patients also had absence or underdevelopment of the fibula (the smaller bone in the lower leg). Because so few cases have been reported, our understanding of this condition is limited. Treatment is mainly supportive and focuses on managing the specific birth defects present in each individual, which may include surgery for cleft palate, orthopedic care for limb differences, dental care, and speech therapy. A team of specialists is usually needed to provide comprehensive care.
Also known as:
Key symptoms:
Cleft lip or cleft palateAbnormalities of the tongue such as extra tissue or lobulated tongueShortening or malformation of fingers or toesAbsence or underdevelopment of the fibula (lower leg bone)Facial asymmetryWidely spaced eyesBroad or flat nasal bridgeExtra fingers or toes (polydactyly)Short statureDental abnormalities such as missing or extra teethLimb length differencesDifficulty with feeding in infancy
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 OBSOLETE: Orofaciodigital syndrome type 10.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Orofaciodigital syndrome type 10.
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 OBSOLETE: Orofaciodigital syndrome type 10.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 orofaciodigital syndrome does my child have, and how severe are they?,Should we pursue genetic testing, and what might it tell us?,What surgeries will my child likely need, and when should they happen?,What therapies (speech, physical, occupational) should we start, and how soon?,Is there a risk of this condition occurring again in future pregnancies?,Are there any other health problems we should screen for?,Can you connect us with other families or support groups for orofaciodigital syndromes?
Common questions about OBSOLETE: Orofaciodigital syndrome type 10
What is OBSOLETE: Orofaciodigital syndrome type 10?
Orofaciodigital syndrome type 10 (OFD10), also known as Figuera syndrome or orofaciodigital syndrome with fibular aplasia, is an extremely rare genetic condition that affects the development of the mouth (oral), face (facial), and fingers and toes (digital). This specific subtype has been classified as 'obsolete' in some medical databases, meaning it may now be grouped under a broader category of orofaciodigital syndromes or reclassified based on newer genetic understanding. The condition was originally described in a very small number of patients and is characterized by features such as cleft
How is OBSOLETE: Orofaciodigital syndrome type 10 inherited?
OBSOLETE: Orofaciodigital syndrome type 10 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Orofaciodigital syndrome type 10 typically begin?
Typical onset of OBSOLETE: Orofaciodigital syndrome type 10 is neonatal. Age of onset can vary across affected individuals.