Overview
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is an extremely rare genetic condition that affects the brain and its development from very early in life. The name describes its main features: seizures that begin in infancy or early childhood (epileptic encephalopathy), vision loss caused by problems in the brain's visual processing areas rather than the eyes themselves (cortical blindness), significant challenges with thinking and learning (intellectual disability), and distinctive facial features (facial dysmorphism). The seizures in this condition are often severe and difficult to control with standard anti-seizure medications. Because the brain is affected so broadly, children with this syndrome typically experience major delays in reaching developmental milestones such as sitting, walking, and speaking. The cortical blindness means the eyes may appear normal on examination, but the brain cannot properly process what the eyes see. Facial features may include subtle differences in the shape of the face, eyes, nose, or ears that a trained geneticist can recognize. Currently, there is no cure for this condition. Treatment focuses on managing seizures with anti-epileptic drugs, providing supportive therapies such as physical therapy, occupational therapy, and speech therapy, and addressing vision-related needs. A multidisciplinary team of specialists is essential for providing the best possible care and quality of life.
Key symptoms:
Severe seizures starting in infancyVision loss due to brain problems (cortical blindness)Intellectual disabilityDistinctive facial featuresSevere developmental delaysDifficulty or inability to walkDifficulty or inability to speakLow muscle tone (floppiness)Feeding difficultiesSmall head size (microcephaly)Abnormal movementsPoor response to visual stimuliLimited ability to interact with surroundings
Clinical phenotype terms (36)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome.
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 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 type of seizures does my child have, and what is the best medication plan to control them?,Should we consider a ketogenic diet or other non-medication approaches for seizure control?,What genetic test confirmed the diagnosis, and what does this mean for future pregnancies?,How can we best support my child's vision and overall development?,What therapies should my child be receiving, and how often?,Are there any clinical trials or research studies that my child might be eligible for?,What emergency plan should we have in place for prolonged seizures?
Common questions about Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
What is Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome?
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is an extremely rare genetic condition that affects the brain and its development from very early in life. The name describes its main features: seizures that begin in infancy or early childhood (epileptic encephalopathy), vision loss caused by problems in the brain's visual processing areas rather than the eyes themselves (cortical blindness), significant challenges with thinking and learning (intellectual disability), and distinctive facial features (facial dysmorphism). The seizures i
How is Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome inherited?
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome typically begin?
Typical onset of Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.