Question: What is (are) Schizencephaly ?
Answer: Schizencephaly is a rare congenital (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 (hypotonia). 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. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
Source: GARD

Question: What causes Schizencephaly ?
Answer: What causes schizencephaly? The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. This supports a genetic cause in some cases. Schizencephaly has also been linked to a variety of non-genetic factors, including young maternal age and certain medications and infections that can cause vascular disruptions (disruption of blood flow or blood supply) in a developing baby.
Source: GARD

Question: Is Schizencephaly inherited ?
Answer: Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene.
Source: GARD

Question: How to diagnose Schizencephaly ?
Answer: Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly. In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis.
Source: GARD

Question: What are the treatments for Schizencephaly ?
Answer: How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. Medications are often prescribed to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
Source: GARD