Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Schizencephaly


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.

Cause

Newline Maker

What causes schizencephaly?

The exact cause of schizencephaly is unknown.[1] A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1.[2][3][4] Rarely, schizencephaly can affect more than one family member.[1][5][6][7] This supports a genetic cause in some cases.[1]

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.[8]
Last updated: 11/18/2014

References
  1. Hilburger AC, Willis JK, Bouldin E, Henderson-Tilton A. Familial schizencephaly. Brain & Development. May-June 1993; 15(3):234-236. http://www.ncbi.nlm.nih.gov/pubmed/8214352. Accessed 4/28/2011.
  2. Yoneda et al. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann. Neurol. 2013; 73:48-57. Accessed 11/18/2014.
  3. Schizencephaly. OMIM. May 2014; http://omim.org/entry/269160. Accessed 11/17/2014.
  4. Hehr U et al. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Human Genetics. March 2010; 127(5):555-561. http://www.ncbi.nlm.nih.gov/pubmed/20157829. Accessed 4/28/2011.
  5. Hosley, M. A., Abroms, I. F., Ragland, R. L. Schizencephaly: case report of familial incidence. Pediat. Neurol. 1992; 8:148-150. Accessed 11/18/2014.
  6. Robinson, R. O. Familial schizencephaly. Dev. Med. Child Neurol. 1991; 33:1010-1014. Accessed 11/18/2014.
  7. Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, Lee CK, Walsh CA. EMX2-independent familial schizencephaly: clinical and genetic analyses. Am J Med Genet A. June 2005; 135(2):166-170. Accessed 11/18/2014.
  8. Schizencephaly. Orphanet. May 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=799. Accessed 11/17/2014.


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.