Living with Schizencephaly
A rare brain difference present from birth in which abnormal slits or clefts form in the brain, which can cause seizures and developmental delay.
Understanding Schizencephaly
Signs may include developmental delay, seizures, and problems with brain-to-spinal-cord communication. Some people also have a small head, hydrocephalus (extra pressure in the brain), intellectual disability, paralysis, or low muscle tone. Severity depends on how much clefting there is and on other brain differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Global developmental delay
- Intellectual disability
- Muscle stiffness (spasticity)
- Weakness on one side of the body
- Crossed eyes (strabismus)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Child Neurology Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the exact cause is unknown but linked to many genetic and non-genetic factors. It lists autosomal dominant and autosomal recessive inheritance.
Also known as: familial schizencephaly, emx2-related; familial schizencephaly, six3-related
Patient organizations
- Child Neurology FoundationSchizencephaly · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Schizencephaly.
Explore research for Schizencephaly
Explore actively recruiting Schizencephaly studies with HealthSpark.
Find actively recruiting studies for Schizencephaly with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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