Overview
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a very rare brain development disorder that affects children from birth or early infancy. The name describes the main features: the head grows more slowly than expected (microcephaly), leading to a smaller-than-normal head size over time; seizures (epilepsy) that can be hard to control; cortical blindness, which means the eyes themselves may be healthy but the brain cannot properly process what they see; and significant delays in development, including learning, movement, and communication skills. This condition is caused by changes (mutations) in genes that are important for normal brain growth and function. Because the brain does not develop properly, children with this syndrome face challenges across many areas of life. Seizures can range from mild to very severe, and developmental delays mean that children may need lifelong support with daily activities, communication, and learning. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, especially controlling seizures with anti-epileptic medications, and supporting development through therapies such as physical therapy, occupational therapy, and speech therapy. A team of specialists works together to give children the best possible quality of life. Early diagnosis and early intervention are important to help children reach their full potential.
Key symptoms:
Smaller-than-normal head size that falls further behind over time (progressive microcephaly)Seizures that may be frequent and hard to controlCortical blindness — difficulty seeing even though the eyes look normalSignificant delays in reaching developmental milestones like sitting, walking, and talkingIntellectual disability ranging from moderate to severeMuscle stiffness or weakness (spasticity or hypotonia)Difficulty feeding, especially in infancyLimited or absent speechPoor coordination and balanceAbnormal eye movements or lack of visual tracking
Clinical phenotype terms (22)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for Progressive microcephaly-seizures-cortical blindness-developmental delay 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 Progressive microcephaly-seizures-cortical blindness-developmental delay 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Which specific gene or genes are causing my child's condition, and what does that mean for our family?,What is the best seizure medication plan for my child, and what should I do if a seizure lasts more than 5 minutes?,What therapies should my child start as soon as possible, and how often should they attend?,Are there any clinical trials or research studies that my child might be eligible for?,What support services and educational resources are available for my child and our family?,Should other family members be tested for the genetic mutation?,What signs should prompt me to seek emergency care, and what is our emergency plan?
Common questions about Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
What is Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome?
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a very rare brain development disorder that affects children from birth or early infancy. The name describes the main features: the head grows more slowly than expected (microcephaly), leading to a smaller-than-normal head size over time; seizures (epilepsy) that can be hard to control; cortical blindness, which means the eyes themselves may be healthy but the brain cannot properly process what they see; and significant delays in development, including learning, movement, and communication skills. This condit
How is Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome inherited?
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome typically begin?
Typical onset of Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is infantile. Age of onset can vary across affected individuals.