Overview
Cerebellar-facial-dental syndrome (also sometimes called CFDS) is a rare genetic condition that affects several parts of the body at the same time, including the brain, face, and teeth. The word 'cerebellar' refers to the cerebellum, which is the part of the brain that helps control balance and coordination. People with this syndrome often have problems with how the cerebellum develops, which can lead to difficulties with movement, balance, and learning. The syndrome is caused by changes (mutations) in the SETD5 gene, which plays an important role in how genes are switched on and off during early development. Because this gene affects many body systems, the condition shows up in several ways. Most people with cerebellar-facial-dental syndrome have some degree of intellectual disability, meaning they may learn more slowly than other children. They also tend to have distinctive facial features that doctors can recognize, as well as dental problems such as widely spaced or unusually shaped teeth. There is currently no cure for this condition. Treatment focuses on managing symptoms and helping individuals reach their full potential. This usually involves a team of specialists working together, including therapists, educators, and medical doctors. Early intervention with speech therapy, physical therapy, and special education support can make a meaningful difference in quality of life.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed speech and language developmentProblems with balance and coordinationDistinctive facial features (such as a broad forehead, widely spaced eyes, or a flat nasal bridge)Dental abnormalities such as widely spaced, missing, or unusually shaped teethCerebellar abnormalities seen on brain scansLow muscle tone (floppiness) in infancyDelayed walking or motor milestonesBehavioral challenges, including features similar to autism spectrum disorderShort stature in some individuals
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Cerebellar-facial-dental syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cerebellar-facial-dental syndrome.
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 Cerebellar-facial-dental syndrome.
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 genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,What therapies should we start right away, and how often should my child receive them?,What developmental milestones should I watch for, and when should I be concerned?,Are there any specialists or clinics that have specific experience with cerebellar-facial-dental syndrome or SETD5-related conditions?,What school supports or early intervention programs should we apply for?,Are there any clinical trials or research studies we could participate in?,What should we expect as my child grows into adulthood in terms of independence and support needs?
Common questions about Cerebellar-facial-dental syndrome
What is Cerebellar-facial-dental syndrome?
Cerebellar-facial-dental syndrome (also sometimes called CFDS) is a rare genetic condition that affects several parts of the body at the same time, including the brain, face, and teeth. The word 'cerebellar' refers to the cerebellum, which is the part of the brain that helps control balance and coordination. People with this syndrome often have problems with how the cerebellum develops, which can lead to difficulties with movement, balance, and learning. The syndrome is caused by changes (mutations) in the SETD5 gene, which plays an important role in how genes are switched on and off during e
How is Cerebellar-facial-dental syndrome inherited?
Cerebellar-facial-dental syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cerebellar-facial-dental syndrome typically begin?
Typical onset of Cerebellar-facial-dental syndrome is infantile. Age of onset can vary across affected individuals.