What is the definition of Schizencephaly?

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. People with schizencephaly 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.

What are the causes for 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.

What are the symptoms for Schizencephaly?

Signs and symptoms of schizencephaly may include:
  • Developmental delay
  • Seizures
  • Abnormally small head (microcephaly)
  • Intellectual disability
  • Partial or complete paralysis
  • Poor muscle tone (hypotonia)
  • 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.

What are the current treatments for Schizencephaly?

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.

What is the outlook (prognosis) for Schizencephaly?

The long-term outlook for people with schizencephaly varies depending on the size and location of the clefts and the extent of intellectual disabilities. For example, children 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.

Is Schizencephaly an inherited disorder?

Although the exact cause of schizencephaly is unknown, most cases are not thought to be inherited. Rarely, schizencephaly can affect more than one family member. This suggests that in some cases, schizencephaly may be hereditary. Both autosomal dominant and autosomal recessive patterns of inheritance have been reported.