Living with Vici syndrome
A condition that starts early in life and affects the brain, immune system, heart, skin, and eyes.
Understanding Vici syndrome
Brain differences include a missing connection between the two halves of the brain (agenesis of the corpus callosum) and a small head. Children have low muscle tone and profound developmental delays. Weak immune function leads to repeated infections, and heart muscle disease is common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing brain connection (corpus callosum)
- Global developmental delay
- Low muscle tone (hypotonia)
- Repeated infections
- Heart muscle disease (cardiomyopathy)
- Seizures
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 allergy and immune system specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in EPG5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, Immune Deficiency Foundation
- 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 Vici Syndrome Foundation 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
Vici syndrome is caused by changes in the EPG5 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: absent corpus callosum-cataract-immunodeficiency syndrome; corpus callosum agenesis-cataract-immunodeficiency syndrome; dionisi vici sabetta gambarara syndrome; dionisi-vici-sabetta-gambarara syndrome; immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum; vicis
Patient organizations
- Vici Syndrome FoundationVici syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Vici syndrome.
Explore research for Vici syndrome
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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