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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Schizencephaly


Other Names for this Disease

  • Familial schizencephaly
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Tests & Diagnosis

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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.[1] Genetic testing is available for these families.[2]
Last updated: 11/18/2014

How is schizencephaly diagnosed?

Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI).[3] 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.[3][4]
Last updated: 11/18/2014

References
  1. Schizencephaly. OMIM. May 2014; http://omim.org/entry/269160. Accessed 11/17/2014.
  2. Schizencephaly. Genetic Testing Registry. http://www.ncbi.nlm.nih.gov/gtr/conditions/C0266484/. Accessed 11/18/2014.
  3. Schizencephaly. Orphanet. May 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=799. Accessed 11/17/2014.
  4. Ken R Close, MD. Schizencephaly Imaging. Medscape. November 2013; http://emedicine.medscape.com/article/413051-overview. Accessed 11/18/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
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.