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Genetic and Rare Diseases Information Center (GARD)

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Schizencephaly


Other Names for this Disease

  • Familial schizencephaly
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Overview

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).[1] Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present.[2] Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors.[2][3] 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.[1]
Last updated: 11/17/2014

References

  1. NINDS Schizencephaly Information Page. National Institute of Neurological Disorders and Stroke. April 16, 2014; http://www.ninds.nih.gov/disorders/schizencephaly/schizencephaly.htm. Accessed 11/17/2014.
  2. Schizencephaly. Orphanet. May 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=799. Accessed 11/17/2014.
  3. Schizencephaly. OMIM. May 2014; http://omim.org/entry/269160. Accessed 11/17/2014.
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Basic Information

  • MedlinePlus provides more information on head and brain malformations. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Schizencephaly. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial schizencephaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.