Living with SIN3A-related intellectual disability syndrome
A rare genetic condition that affects development and learning, with feeding trouble, low muscle tone and seizures.
Understanding SIN3A-related intellectual disability syndrome
People have mild intellectual disability and developmental delay. Other features include distinctive facial features, growth and feeding problems, low muscle tone, epilepsy, behavior problems and a range of birth differences. Signs begin during pregnancy and in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features include:
- Mild intellectual disability
- Developmental delay
- Growth and feeding problems
- Low muscle tone (hypotonia)
- Epilepsy
- Behavior problems
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 and genetic specialists.
- 3Consider genetic testing
Changes in SIN3A 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)
- 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
- 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
GARD lists changes in the SIN3A gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: witkos; witteveen-kolk syndrome
Patient organizations
- Simons SearchlightSIN3A-related intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with SIN3A-related intellectual disability syndrome.
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