Overview
Orofaciodigital syndrome type 13 (OFD13) 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 form 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 asymmetry, and extra fingers or toes (polydactyly) or other digit malformations. Some forms also involve brain abnormalities, intellectual disability, and kidney problems. Because OFD13 is obsolete as a separate entity, patients who were previously given this diagnosis may now fall under a different OFD subtype or a broader classification. If you or a family member received this diagnosis, it is important to consult with a clinical geneticist to clarify the current classification and ensure appropriate management. Treatment is generally supportive and symptom-based, as there is no cure for orofaciodigital syndromes. Surgical correction of cleft palate, dental abnormalities, and digit malformations may be needed, along with developmental support for children with intellectual disability.
Also known as:
Key symptoms:
Cleft lip or cleft palateExtra fingers or toes (polydactyly)Abnormal tongue with small growths or lobed shapeFacial asymmetryWidely spaced eyesShort fingers or toesDental abnormalities such as missing or extra teethIntellectual disabilityBrain abnormalitiesKidney cysts or other kidney problemsHearing lossShort stature
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 13.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Orofaciodigital syndrome type 13.
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 13.
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 13 is now considered obsolete, what is the current correct 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 brain development be monitored?,What therapies (speech, occupational, developmental) should we start, and how soon?,Are there any clinical trials or research studies we should know about?,What is the expected long-term outlook for my child based on their specific symptoms?
Common questions about OBSOLETE: Orofaciodigital syndrome type 13
What is OBSOLETE: Orofaciodigital syndrome type 13?
Orofaciodigital syndrome type 13 (OFD13) 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 form 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 13 typically begin?
Typical onset of OBSOLETE: Orofaciodigital syndrome type 13 is neonatal. Age of onset can vary across affected individuals.