Overview
TBCK-related encephalopathy with severe hypotonia and craniofacial dysmorphism (sometimes called TBCK syndrome or TBCK-related intellectual disability syndrome) is a rare genetic brain disorder caused by changes in the TBCK gene. This gene plays an important role in how brain cells grow, survive, and communicate with each other. When the TBCK gene does not work properly, the brain does not develop normally, leading to a range of serious neurological problems. Children with this condition typically show signs very early in life, including extremely low muscle tone (called hypotonia), severe intellectual disability, and delayed or absent developmental milestones such as sitting, standing, or speaking. Many children also have distinctive facial features, such as a small head size (microcephaly), widely spaced eyes, and other subtle differences in facial structure. Seizures are common and can be difficult to control. Brain imaging often shows that the brain is smaller than expected or has structural differences. There is currently no cure for TBCK syndrome. Treatment focuses on managing symptoms, supporting development, and improving quality of life. This includes anti-seizure medications, physical therapy, occupational therapy, speech therapy, and nutritional support. The condition is lifelong and typically causes profound disability, requiring full-time care throughout the person's life.
Key symptoms:
Severe low muscle tone (hypotonia) from birthProfound intellectual disabilityLittle or no speech developmentSeizures, often hard to controlVery small head size (microcephaly)Delayed or absent motor milestones (cannot sit, stand, or walk independently)Feeding difficulties, often requiring tube feedingDistinctive facial features such as widely spaced eyes and a flat nasal bridgeBrain shrinkage or structural brain abnormalities seen on MRIBreathing problems, especially in infancySpasticity (stiff muscles) in some childrenPoor or absent eye contact and visual tracking difficultiesGastroesophageal reflux and digestive problems
Clinical phenotype terms (50)— hover any for plain English
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 TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism 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 TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 genetic testing do you recommend to confirm the diagnosis, and how long will results take?,What type of seizures does my child have, and what is the best medication plan to manage them?,Does my child need a feeding tube, and what are the signs that one is becoming necessary?,What therapies (physical, occupational, speech) should we start, and how often should they happen?,Is there any risk of the condition getting worse over time, and what signs should we watch for?,Are there any clinical trials or research studies we could consider joining?,What support services and community resources are available for our family?
Common questions about TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
What is TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome?
TBCK-related encephalopathy with severe hypotonia and craniofacial dysmorphism (sometimes called TBCK syndrome or TBCK-related intellectual disability syndrome) is a rare genetic brain disorder caused by changes in the TBCK gene. This gene plays an important role in how brain cells grow, survive, and communicate with each other. When the TBCK gene does not work properly, the brain does not develop normally, leading to a range of serious neurological problems. Children with this condition typically show signs very early in life, including extremely low muscle tone (called hypotonia), severe in
How is TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome inherited?
TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome typically begin?
Typical onset of TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.