Schizencephaly


The probability of having Schizencephaly is 1.48 for every 100,000 births

What is Schizencephaly?
Schizencephaly
 is a rare  (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone.

Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors.


Signs and symptoms

  • Developmental delay
  • ​Seizures
  • Abnormally small head (microcephaly)
  • Intellectual disability
  • Partial or complete paralysis
  • Poor muscle tone
  • Hydrocephalus

Severity of symptoms depends on many factors, including the extent of the clefting and whether or not other brain abnormalities are present. For example, people with a small cleft in one hemisphere may have paralysis on one side of the body and little to no intellectual disability, while clefts in both hemispheres can lead to quadriplegia (paralysis of both arms and legs) and severe intellectual disability.

Cause
The exact cause of schizencephaly is unknown. Some people have genetic and vascular theories about the possible causes.

People have linked some cases of the condition to certain medications or infections that can disrupt blood flood in developing infants.

Some people with schizencephaly have mutations in one of these genes:

  • EMX2
  • SIX3
  • SHH
  • COL4A1

Cases of schizencephaly in siblings also point to a possible genetic cause.


Diagnosis
Your doctor will likely use MRI to diagnose schizencephaly. The images created by MRIs have better definition than CT scans. MRIs can also create images of multiple parts of your brain.
If your doctor finds telltale clefts in one or both cerebral hemispheres of your brain, they’ll diagnose you with schizencephaly.


Treatments
No known cure for schizencephaly exists, but your doctor may prescribe a variety of treatments to help manage your symptoms, treat complications, and improve your quality of life.

Your doctor may prescribe medication to help prevent seizures. If cerebrospinal fluid (CSF) has accumulated in your brain, your doctor may refer you to a surgeon to insert shunts. These devices will redirect the CSF to other parts of your body that can harmlessly reabsorb it.

Therapies
At least three different kinds of therapists can help people with schizencephaly live more independently and improve their quality of life:

  • Physical therapists can help you improve your gross motor movements, such as your ability to stand and walk. They can also help you strengthen your arms and legs.
  • Occupational therapists can help you improve your fine motor movements, such as your ability to feed yourself and get dressed. They can also help you make your home and work environments accessible.
  • Speech therapists can help you learn to speak or swallow more effectively

Prognosis
Because it’s so rare, little is known about the long-term outlook for this disorder. It may depend on the size and location of your clefts, as well as your symptoms and disabilities. Ask your doctor for more information about your specific condition, treatment options, and outlook.


Research
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Christopher A. Walsh Laboratory is interested in the development of the cerebral cortex. Abnormal development of the cerebral cortex in humans results in epilepsy, autism, mental retardation, dyslexia, and other learning disorders, and perhaps some psychiatric conditions as well. Several of their projects are directed at trying to understand the basic biology of the cortex by studying the mutations that disturb its development. Conditions that they are currently researching include: double cortex syndrome, periventricular heterotopia, schizencephaly, perisylvian polymicrogyria and Walker Warburg syndrome. Click on the link above to access further information about this research.
  • ClinicalTrials.gov lists trials that are studying or have studied Schizencephaly. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".


​Information on this page taken directly from:
Healthline
Genetic & Rare Diseases Information Center
We Are R.A.R.E.

Want to learn more?

The following are organizations and/or websites dedicated to providing information and education surrounding Schizencephaly. These organizations are dedicated to research, education, awareness, and/or support. They are listed in Alphabetical order without any preference or prejudice. Listing these organizations is not a recommendation or referral in any regard for seeking treatment or consultation or support for treatment.

Healthline
Genetic & Rare Diseases Information Center
National Institute for Neurological Disorder & Strokes
Schiz Kidz Buddies
We Are R.A.R.E.