Peho Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Peho Syndrome?
A primary care doctor is often the first person a family sees. Because PEHO syndrome is so complex, care usually involves a neurologist, along with eye doctors and therapy specialists. A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor offers a similar membership model that often costs more and may work alongside insurance.
What it is
PEHO syndrome is a very rare genetic condition that affects the brain and eyes. The name stands for progressive encephalopathy, meaning brain disease that worsens over time; edema, swelling from fluid buildup; hypsarrhythmia, an abnormal brain wave pattern on an EEG; and optic atrophy, damage to the nerve connecting the eye to the brain. Most children show signs in the first months of life.
Symptoms
Babies with PEHO syndrome often have seizures, which usually begin early and can be hard to control. Many also have low muscle tone, meaning their muscles feel floppy. Other signs include swelling in the arms and legs, especially the feet and ankles, and vision problems as the optic nerve becomes damaged. Children usually have serious developmental delays and some have a smaller head size than expected.
Causes and who gets it
PEHO syndrome is caused by changes in genes, most often ZNHIT3, though other genes may be involved. The change may happen for the first time in the child or be inherited from parents who carry it without symptoms. The condition is extremely rare and affects boys and girls alike.
How doctors diagnose it
Doctors look for the main features: severe developmental delay, seizures, swelling, small head size, and vision loss. An EEG checks for hypsarrhythmia, an eye exam can show optic atrophy, and genetic testing can confirm the diagnosis.
Treatment
There is no cure, so treatment focuses on managing symptoms and supporting development. Anti-seizure medicines can help, though seizures may be difficult to treat. Physical, occupational, and speech therapies support movement and communication, and regular eye care monitors vision.
When to see a doctor
Parents should talk to a doctor if a baby has seizures, unusual floppiness, or swelling in the hands or feet, or seems far behind in milestones like rolling over or smiling. Any seizure is a reason to seek medical care right away.
How a direct primary care or concierge doctor fits in
Either type can spend extra time with families and coordinate referrals to a pediatric neurologist, eye doctor, or genetic specialist. Families may find such doctors through a directory like FindMyDirectDoctor.com.
Common questions
Is PEHO syndrome the same as PEHO-like syndrome?
No. PEHO-like syndrome describes children who have some features of PEHO syndrome but not all of them. It may have different causes. Doctors use careful testing to tell the two apart.
Can PEHO syndrome be prevented?
There is no known way to prevent it. Families who have had one child with the condition may want to speak with a genetic counselor. This is a trained expert who explains how conditions are inherited and what the chances are of it happening again.
What is life like for a child with PEHO syndrome?
Every child is different, but most children need ongoing care and support with daily activities. Many families find that therapies, school support, and community resources improve quality of life for both the child and the whole family.
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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.
