Living with Tatton-Brown-Rahman overgrowth syndrome
A rare genetic overgrowth condition with tall stature, mild to moderate learning difficulty, and distinct facial features.
Understanding Tatton-Brown-Rahman overgrowth syndrome
People tend to have mild to moderate intellectual disability and a distinct face, which may include a round face, heavy eyebrows, and narrow eyes. Other features include flexible joints, low muscle tone, and a sideways curve of the spine. Signs may be seen in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tall stature
- Large head
- Moderate intellectual disability
- Low muscle tone in infancy
- Curved spine (kyphoscoliosis)
- Obesity and behavior differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in DNMT3A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the DNMT3A gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: dna methyltransferase 3 alpha overgrowth syndrome; dnmt3a-related overgrowth syndrome; tall stature-intellectual disability-facial dysmorphism syndrome; tall stature, intellectual disability, facial dysmorphism syndrome; tatton brown rahman overgrowth syndrome; tatton brown rahman syndrome
Patient organizations
- Simons SearchlightTatton-Brown-Rahman overgrowth syndrome · United States
- Tatton Brown Rahman Syndrome CommunityTatton-Brown-Rahman overgrowth syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Tatton-Brown-Rahman overgrowth syndrome.
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