Overview
Tatton-Brown-Rahman syndrome (TBRS), also known as DNMT3A overgrowth syndrome, is a rare genetic condition caused by changes (mutations) in the DNMT3A gene. This gene plays an important role in how the body controls gene activity through a process called DNA methylation. When this gene does not work properly, it leads to a pattern of overgrowth, intellectual disability, and distinctive facial features. Children with TBRS are often taller and heavier than expected from birth or early childhood. They typically have a larger-than-average head size (macrocephaly) and may show mild to moderate intellectual disability or learning difficulties. Facial features can include a round face, heavy eyebrows, and widely spaced eyes. Some individuals may also develop obesity and joint hypermobility (unusually flexible joints). Behavioral challenges, including features of autism spectrum disorder, have been reported in some patients. There is currently no cure for Tatton-Brown-Rahman syndrome. Treatment focuses on managing individual symptoms and supporting development. This includes early intervention programs, speech therapy, occupational therapy, and educational support. Regular monitoring by a team of specialists helps address the various aspects of the condition as the child grows. The syndrome was first described in 2014, and researchers continue to learn more about it, meaning care recommendations may evolve over time.
Key symptoms:
Tall stature or overgrowth from early childhoodLarger-than-average head sizeIntellectual disability, usually mild to moderateLearning difficultiesRound face with distinctive facial featuresHeavy or thick eyebrowsWidely spaced eyesObesity or increased weightUnusually flexible joints (joint hypermobility)Low muscle tone in infancySpeech and language delaysBehavioral challengesFeatures of autism spectrum disorderDifficulty with fine motor skillsScoliosis or other skeletal differences
Clinical phenotype terms (40)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Tatton-Brown-Rahman syndrome.
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Specialists
View all specialists →No specialists are currently listed for Tatton-Brown-Rahman 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 Tatton-Brown-Rahman 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 specific DNMT3A mutation does my child have, and does it tell us anything about what to expect?,What therapies should we start right away to support my child's development?,How often should my child have growth and developmental check-ups?,Is there any increased risk of cancer or other serious health problems we should monitor for?,Should other family members be tested for the DNMT3A mutation?,What educational supports and accommodations should we request at school?,Are there any clinical trials or research studies we could participate in?
Common questions about Tatton-Brown-Rahman syndrome
What is Tatton-Brown-Rahman syndrome?
Tatton-Brown-Rahman syndrome (TBRS), also known as DNMT3A overgrowth syndrome, is a rare genetic condition caused by changes (mutations) in the DNMT3A gene. This gene plays an important role in how the body controls gene activity through a process called DNA methylation. When this gene does not work properly, it leads to a pattern of overgrowth, intellectual disability, and distinctive facial features. Children with TBRS are often taller and heavier than expected from birth or early childhood. They typically have a larger-than-average head size (macrocephaly) and may show mild to moderate int
How is Tatton-Brown-Rahman syndrome inherited?
Tatton-Brown-Rahman syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Tatton-Brown-Rahman syndrome typically begin?
Typical onset of Tatton-Brown-Rahman syndrome is childhood. Age of onset can vary across affected individuals.