Acquired schizencephaly

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ORPHA:485275OMIM:269160Q04.6
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Overview

Acquired schizencephaly is a rare brain condition where abnormal clefts or splits form in the cerebral cortex — the outer layer of the brain that controls thinking, movement, and sensation. Unlike the congenital (present-at-birth) form of schizencephaly, the acquired form develops after birth, usually as a result of brain injury, infection, or damage that occurs during early childhood. The word 'schizencephaly' comes from Greek words meaning 'split brain.' You may also hear it referred to as acquired cortical clefting or post-injury schizencephaly. These clefts can appear on one side of the brain (unilateral) or both sides (bilateral), and their size and location greatly affect how a person is impacted. Common causes include stroke, severe head injury, brain infections such as cytomegalovirus (CMV), or lack of oxygen to the brain. Because the brain is still developing in early childhood, damage during this period can disrupt normal brain structure and lead to the characteristic clefts seen on brain scans. Symptoms vary widely depending on where the clefts are located and how large they are. Many children experience seizures, muscle stiffness or weakness, delays in reaching developmental milestones like walking or talking, and intellectual disabilities. Some children may have relatively mild symptoms, while others face significant challenges. Treatment focuses on managing symptoms — there is currently no cure. With the right support, including seizure medications, physical therapy, and educational assistance, many individuals can improve their quality of life.

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 or learning difficultiesDifficulty with coordination and balanceVision problemsHydrocephalus (fluid buildup in the brain)Paralysis or weakness on one side of the body (hemiplegia)Feeding difficulties in infants

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Acquired schizencephaly.

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No actively recruiting trials found for Acquired schizencephaly at this time.

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No specialists are currently listed for Acquired schizencephaly.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Acquired schizencephaly.

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Community

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Latest news about Acquired schizencephaly

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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.What caused the brain clefts in my child's case, and could it have been prevented?,What type and size of cleft does my child have, and what does that mean for their future development?,What is the best medication to control my child's seizures, and what are the side effects?,What therapies do you recommend, and how often should my child receive them?,Should we do genetic testing to rule out an inherited cause or related condition?,What signs should prompt me to seek emergency care?,Are there any clinical trials or research studies that my child might be eligible for?

Common questions about Acquired schizencephaly

What is Acquired schizencephaly?

Acquired schizencephaly is a rare brain condition where abnormal clefts or splits form in the cerebral cortex — the outer layer of the brain that controls thinking, movement, and sensation. Unlike the congenital (present-at-birth) form of schizencephaly, the acquired form develops after birth, usually as a result of brain injury, infection, or damage that occurs during early childhood. The word 'schizencephaly' comes from Greek words meaning 'split brain.' You may also hear it referred to as acquired cortical clefting or post-injury schizencephaly. These clefts can appear on one side of the b

How is Acquired schizencephaly inherited?

Acquired schizencephaly follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Acquired schizencephaly typically begin?

Typical onset of Acquired schizencephaly is infantile. Age of onset can vary across affected individuals.