Schizencephaly

What is schizencephaly?

Schizencephaly (pronounced “skizz-en-sef-uh-lee”) is a brain malformation that’s present at birth (congenital). It causes slits (clefts) to form in your brain’s cerebral hemispheres. These are the right and left sides of your brain that manage your:

• Language skills.
• Motor skills.
• Cognitive function.
• Emotions.
• Hearing.
• Vision.

The clefts can appear on one side of your brain (unilateral) or both sides of your brain (bilateral).

If you have schizencephaly, the clefts in your brain fill with cerebrospinal fluid and grey matter. The fluid protects your brain from damage. Grey matter is a type of tissue in your brain and spinal cord. It helps regulate your movement, memory and emotions. But too much cerebrospinal fluid and grey matter in these clefts can cause symptoms.

Symptoms of schizencephaly vary based on what part(s) of your brain has a cleft, but could include developmental delays, paralysis or a small head size.

What are the types of schizencephaly?

There are two types of schizencephaly:

• Open-lip schizencephaly: The cleft extends from the outside of your brain to the ventricles inside of your brain. Ventricles are chambers that contain cerebrospinal fluid.
• Closed-lip schizencephaly: The cleft is short and doesn’t reach the ventricles inside of your brain.

How common is schizencephaly?

Schizencephaly is rare. It affects an estimated 1.5 per 100,000 babies born in the United States and 1.48 per 100,000 babies born in the United Kingdom.

What are the signs and symptoms of schizencephaly?

Signs and symptoms of schizencephaly vary based on the size and location of the cleft and could include:

• A small head size.
• Weak muscle tone or a loss of strength (hemiparesis).
• Tight or stiff muscles (spasticity).
• Paralysis (part of your body or your entire body).
• Seizures.
• A buildup of fluid in your brain (hydrocephalus).
• Misalignment of your eyes (strabismus).

Schizencephaly can cause developmental delays. These are skills that a child learns at a certain age. Your child may need more time than others to:

• Move independently (gross and fine motor skills).
• Communicate (speech and language skills).
• Learn (cognitive skills).
• Play (social and emotional skills).

Closed-lip schizencephaly can be asymptomatic, which means you won’t experience any symptoms.

What causes schizencephaly?

The cause of schizencephaly is unknown. Research suggests it could be the result of exposure to the following during fetal development:

• Certain medications (warfarin).
• Certain substances (cocaine).
• A virus (Zika virus or cytomegalovirus).
• Amniocentesis procedure complications.

In addition, a genetic change (mutation) can affect how a fetus’ brain develops. Genetic mutations are changes to your DNA. They’re usually sporadic and happen randomly, without any history of the condition in a person’s biological family history.

In very rare cases, you can inherit the condition.

The following genetic mutations may cause schizencephaly:

What are the risk factors for schizencephaly?

You may be more at risk of having a child with schizencephaly if you experienced one of the following during pregnancy:

• Substance use disorder.
• A viral infection (cytomegalovirus or Zika virus).
• Low oxygen levels in your blood (hypoxia).
• Amniocentesis.
• Trauma.
• Taking prescribed warfarin.

A young maternal age, or having a child before age 25, can also put you at a higher risk of having a child with schizencephaly.

Is schizencephaly associated with other conditions?

Healthcare providers may diagnose schizencephaly along with other conditions like:

• Cerebral palsy.
• Agenesis of the corpus callosum.
• Septo-optic dysplasia.
• Arachnoid cysts.

How is schizencephaly diagnosed?

A healthcare provider will look for signs of schizencephaly during prenatal ultrasounds after 20 weeks of pregnancy. A diagnosis occurs after your baby is born. Your provider will use magnetic resonance imaging (MRI) or a computed tomography (CT) scan to make a diagnosis. These imaging tests can also determine the extent of the cleft and the type of schizencephaly.

In addition, your child’s provider may order a genetic test to look for changes to their DNA that could determine the cause.

How is schizencephaly treated?

Treatment for schizencephaly focuses on alleviating or managing symptoms of the condition. Treatment could include:

• Taking medications to prevent seizures.
• Surgery to add a shunt or tube in your brain to relocate excess fluid caused by hydrocephalus.
• Surgery to reduce pressure on your brain caused by excess fluid.
• Physical therapy, occupational therapy and/or speech therapy.
• Participating in supportive educational programs in school.

Are there side effects of schizencephaly treatment?

Talk to your healthcare provider about the side effects of treatment for schizencephaly. There may be side effects associated with surgery and medications that vary based on what type you’ll receive.

Can schizencephaly be prevented?

There isn’t a way to prevent all cases of schizencephaly. You can reduce your risk of having a child with schizencephaly by taking care of yourself during pregnancy. This could include:

• Visiting your healthcare provider regularly for checkups.
• Taking precautions to avoid infections.
• Talking to your healthcare provider about the medications you currently take.
• Avoiding substances that can harm a developing fetus.
• Meeting with a genetic counselor to learn more about your risk of having a child with a genetic condition.

What is the outlook for schizencephaly?

Your outlook with schizencephaly varies based on the size and location of the clefts in your brain. Some people may have small clefts that don’t cause any symptoms. Others may have larger clefts that lead to more severe symptoms that require lifelong support.

What’s the life expectancy for schizencephaly?

Schizencephaly doesn’t affect your life expectancy. But certain complications from the condition can be life-threatening, like seizures or hydrocephalus.

When should I see a healthcare provider?

Visit a healthcare provider if you or your child:

• Experience changes to your muscle tone (stiff or weak).
• Lose the ability to move part of your body (paralysis).
• Miss developmental milestones for your age.

If you or your child have a seizure, call 911 or your local emergency services number.

What questions should I ask my doctor?

• What type of schizencephaly do I have?
• How can I support my child?
• Are there complications I should look out for?
• Do I need surgery?
• What treatment options do you recommend?
• Are there side effects of the treatment?
• Are there any support groups for caregivers?

A note from Cleveland Clinic

It can be overwhelming to learn that you, your child or a loved one have a rare neurological condition. Schizencephaly and how it affects you varies based on the size of the clefts in your brain. You may not have any symptoms, or you may need support throughout your life. This condition doesn’t affect your life expectancy or your ability to accomplish goals in your daily life. Though, certain things may be more challenging than others. Your care team can help you learn more about the condition and treatment options that can help you feel better.