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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 developmental birth defect. It is characterized by abnormal slits or clefts in the cerebral hemispheres of the brain. People with clefts in both hemispheres commonly have developmental delays, delays in speech and language skills, seizures, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere are often paralyzed on one side of the body, may have seizures, and may have average to near-average intelligence. Other signs and symptoms may include an abnormally small head (microcephaly), hydrocephalus, intellectual disability, partial or complete paralysis, or poor muscle tone (hypotonia). 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: 9/29/2011

References

  1. NINDS Schizencephaly Information Page. NINDS. May 6, 2010; http://www.ninds.nih.gov/disorders/schizencephaly/schizencephaly.htm. Accessed 9/28/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Schizencephaly have been answered. See questions and answers. You can also submit a new question.

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 Merck Manuals Online Medical Library has an information page on brain anomalies in general. Click on the link above to view the information page.
  • 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.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.