Vici Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Vici Syndrome?
A pediatrician or family doctor is usually the first point of contact and helps coordinate care. Because Vici syndrome affects many body systems, children also see specialists, including neurologists for the brain, immunologists for the immune system, and geneticists for testing and counseling. A direct primary care or concierge doctor can spend extra time coordinating this team and will refer the child to specialists when needed.
What it is
Vici syndrome is a very rare genetic condition caused by changes in genes passed down in families. In Vici syndrome, several parts of the body do not develop the way they should, affecting the brain, the immune system, the skin, and sometimes the eyes and heart.
Symptoms
Signs of Vici syndrome usually show up in babies. Children often have serious delays in development and floppy muscle tone, and seizures are common. The immune system often does not work well, so infections happen more often and can be more serious. Other signs can include very light skin and hair, small or poorly formed eyes, hearing loss, and heart defects present from birth. Each child is different, and not every child has every symptom.
Causes and who gets it
Vici syndrome happens when a child inherits two changed copies of a gene called EPG5, one from each parent. This is called autosomal recessive inheritance: the parents usually carry one changed copy each but have no symptoms themselves. When the EPG5 gene's cleanup process in cells fails, damage builds up in the brain and other organs.
How doctors diagnose it
Genetic testing, a lab test that reads a person's genes to look for changes, is the main way to confirm the diagnosis. Doctors may also use brain imaging such as an MRI scan and blood tests to check the immune system. Because the condition is so rare, families are often referred to a genetics specialist.
Treatment
There is no cure for Vici syndrome. Care focuses on managing each symptom and keeping the child as healthy and comfortable as possible. Seizures are treated with medicines chosen by a neurologist, infections are treated promptly, and physical therapy, speech therapy, feeding support, and special education services can all help.
When to see a doctor
Parents should talk to a doctor if a baby or young child has floppy muscles, missing developmental milestones, frequent serious infections, or vision or hearing problems. Any seizure is a reason for urgent medical care.
Common questions
Is Vici syndrome inherited from the parents?
Yes, but the parents are usually healthy carriers. Each parent has one changed copy of the EPG5 gene and one normal copy. When a child receives a changed copy from both parents, the condition appears.
Can Vici syndrome be prevented?
There is no known way to prevent it. Families who have had one affected child may want to meet with a genetic counselor. This is a trained professional who explains inheritance and testing options before or during future pregnancies.
How common is Vici syndrome?
It is extremely rare. Only a small number of cases have been reported worldwide since the condition was first described.
What is life like for a child with Vici syndrome?
Most children need lifelong care and support with daily activities. The severity varies from child to child. A care team can help families plan therapies, schooling, and medical follow-up.
Sources
- NIH Genetic and Rare Diseases Information Center - Vici syndrome
- MedlinePlus Genetics - Vici syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
