Overview
Familial schizencephaly is a rare brain development disorder where abnormal clefts or splits form in the brain tissue during fetal development. These clefts are lined with gray matter (the thinking part of the brain) and can appear on one side of the brain (unilateral) or both sides (bilateral). The condition is called 'familial' because it runs in families, meaning it is passed down through genes, which sets it apart from the more common sporadic (non-inherited) form of schizencephaly. The clefts in the brain can disrupt normal brain function in many ways. People with this condition may experience seizures, muscle weakness or stiffness, problems with movement and coordination, and delays in reaching developmental milestones like talking or walking. The severity of symptoms depends largely on the size and location of the clefts and whether one or both sides of the brain are affected. Bilateral (both-sided) clefts tend to cause more significant challenges than unilateral (one-sided) clefts. There is currently no cure for familial schizencephaly. Treatment focuses on managing symptoms and improving quality of life. This may include anti-seizure medications, physical therapy, occupational therapy, and speech therapy. Early intervention and a strong support team can make a meaningful difference in helping individuals reach their full potential.
Key symptoms:
Seizures or epilepsyMuscle stiffness or spasticityMuscle weakness on one or both sides of the bodyDelayed speech and language developmentDelayed motor milestones such as sitting, crawling, or walkingIntellectual disability (ranges from mild to severe)Difficulty with coordination and balanceParalysis or weakness on one side of the body (hemiplegia)Vision problemsSmall head size (microcephaly) in some casesFeeding difficulties in infancy
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 Familial schizencephaly.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial schizencephaly at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Familial schizencephaly.
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 Familial schizencephaly.
Community
No community posts yet. Be the first to share your experience with Familial schizencephaly.
Start the conversation →Latest news about Familial schizencephaly
No recent news articles for Familial schizencephaly.
Follow this condition to be notified when news becomes available.
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 genes should be tested in our family, and what does a positive or negative result mean for us?,What type and size of cleft does my child have, and how does that affect their prognosis?,What is the best anti-seizure medication for my child's type of epilepsy, and what are the side effects?,What therapies should we start right away, and how often should they happen?,Are there any clinical trials or research studies we could participate in?,What should we do if my child has a prolonged seizure at home?,Should other family members be tested or screened for this condition?
Common questions about Familial schizencephaly
What is Familial schizencephaly?
Familial schizencephaly is a rare brain development disorder where abnormal clefts or splits form in the brain tissue during fetal development. These clefts are lined with gray matter (the thinking part of the brain) and can appear on one side of the brain (unilateral) or both sides (bilateral). The condition is called 'familial' because it runs in families, meaning it is passed down through genes, which sets it apart from the more common sporadic (non-inherited) form of schizencephaly. The clefts in the brain can disrupt normal brain function in many ways. People with this condition may expe
At what age does Familial schizencephaly typically begin?
Typical onset of Familial schizencephaly is neonatal. Age of onset can vary across affected individuals.