Overview
Polymicrogyria with optic nerve hypoplasia is a rare brain development disorder that affects two parts of the nervous system at the same time: the surface of the brain and the optic nerves, which carry visual signals from the eyes to the brain. 'Polymicrogyria' means the brain has too many small, abnormal folds on its surface instead of the normal larger, smoother folds. This happens while the baby is still developing in the womb. 'Optic nerve hypoplasia' means the optic nerves are smaller than normal and underdeveloped, which affects how well a person can see. Because both the brain structure and the visual pathways are affected, people with this condition often experience a combination of neurological and vision problems. Seizures are very common, as are delays in reaching developmental milestones like sitting, walking, and talking. Intellectual disability can range from mild to severe. Vision problems vary widely — some people have reduced vision, while others may have more significant visual impairment. There is currently no cure for this condition. Treatment focuses on managing symptoms, especially seizures with anti-seizure medications, and supporting development through physical, occupational, and speech therapies. A team of specialists is usually needed to provide the best care. Early intervention and therapy programs can make a meaningful difference in quality of life.
Key symptoms:
Seizures or epilepsyIntellectual disability or learning difficultiesDelayed development (sitting, walking, talking later than expected)Reduced or impaired visionSmall or underdeveloped optic nervesMuscle stiffness or weaknessDifficulty with coordination and balanceProblems with feeding in infancyAbnormal eye movements or nystagmus (eyes moving back and forth involuntarily)Speech and language delaysBehavioral challenges
Clinical phenotype terms (14)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Polymicrogyria with optic nerve hypoplasia.
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Specialists
View all specialists →No specialists are currently listed for Polymicrogyria with optic nerve hypoplasia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Polymicrogyria with optic nerve hypoplasia.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What part of my child's brain is affected by the polymicrogyria, and how does that relate to their symptoms?,Should we do genetic testing, and which type of test is most likely to find a cause?,What is the best anti-seizure medication to start with, and what are the side effects to watch for?,Are there hormone problems associated with the optic nerve hypoplasia that we should test for?,What therapies (physical, occupational, speech, vision) should my child be receiving, and how often?,What should I do if my child has a prolonged seizure at home?,Are there any clinical trials or research studies we should know about for this condition?
Common questions about Polymicrogyria with optic nerve hypoplasia
What is Polymicrogyria with optic nerve hypoplasia?
Polymicrogyria with optic nerve hypoplasia is a rare brain development disorder that affects two parts of the nervous system at the same time: the surface of the brain and the optic nerves, which carry visual signals from the eyes to the brain. 'Polymicrogyria' means the brain has too many small, abnormal folds on its surface instead of the normal larger, smoother folds. This happens while the baby is still developing in the womb. 'Optic nerve hypoplasia' means the optic nerves are smaller than normal and underdeveloped, which affects how well a person can see. Because both the brain structur
At what age does Polymicrogyria with optic nerve hypoplasia typically begin?
Typical onset of Polymicrogyria with optic nerve hypoplasia is neonatal. Age of onset can vary across affected individuals.