Overview
Orofaciodigital syndrome type 12 (OFD12) is an extremely rare genetic condition that was previously classified as a distinct subtype within the orofaciodigital syndrome family. This classification has since been marked as obsolete in medical databases, meaning that the condition may have been reclassified or merged with another recognized type of orofaciodigital syndrome as scientific understanding has advanced. Orofaciodigital syndromes as a group affect the development of the mouth (oral cavity), face, and fingers or toes (digits). Common features across these syndromes include cleft lip or palate, tongue abnormalities such as extra small growths (hamartomas) or a lobed tongue, facial differences, and extra fingers or toes (polydactyly) or other digit malformations. Some types also involve brain abnormalities, intellectual disability, and kidney problems. Because OFD12 is obsolete as a separate entity, patients previously given this diagnosis should work with a clinical geneticist to determine which current classification best fits their condition. Treatment is generally supportive and tailored to the specific symptoms present, and may include surgery for oral or digit abnormalities, speech therapy, and developmental support. There is no single cure for orofaciodigital syndromes, and management focuses on improving quality of life.
Also known as:
Key symptoms:
Cleft lip or cleft palateExtra fingers or toes (polydactyly)Abnormal tongue with small growths or lobesFacial differencesShort fingers or toes (brachydactyly)Webbing or fusion of fingers or toes (syndactyly)Intellectual disabilitySpeech difficultiesDental abnormalities such as missing or extra teethKidney cysts or other kidney problemsBrain abnormalitiesWidely spaced eyesSmall jaw
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Orofaciodigital syndrome type 12.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Orofaciodigital syndrome type 12.
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 12.
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.Since OFD type 12 is now considered obsolete, what is the most accurate current diagnosis for my child's condition?,What genetic testing should be done to identify the specific cause?,What surgeries or procedures will my child need, and when should they be scheduled?,How often should kidney function and structure be monitored?,What developmental and educational support services should we pursue?,Are there any clinical trials or research studies we should consider?,What is the expected long-term outlook for my child based on their specific symptoms?
Common questions about OBSOLETE: Orofaciodigital syndrome type 12
What is OBSOLETE: Orofaciodigital syndrome type 12?
Orofaciodigital syndrome type 12 (OFD12) is an extremely rare genetic condition that was previously classified as a distinct subtype within the orofaciodigital syndrome family. This classification has since been marked as obsolete in medical databases, meaning that the condition may have been reclassified or merged with another recognized type of orofaciodigital syndrome as scientific understanding has advanced. Orofaciodigital syndromes as a group affect the development of the mouth (oral cavity), face, and fingers or toes (digits). Common features across these syndromes include cleft lip or
At what age does OBSOLETE: Orofaciodigital syndrome type 12 typically begin?
Typical onset of OBSOLETE: Orofaciodigital syndrome type 12 is neonatal. Age of onset can vary across affected individuals.