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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Craniorachischisis


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Cause


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What causes craniorachischisis?

Despite neural tube defects (NTDs) being among the most common birth defects, their underlying cause is not completely understood. In most cases they are thought to be multifactorial, which means that one or more genes interact with the environment to predispose an individual to having a NTD. Because folic acid can sometimes prevent NTDs, many studies have focused on genes known to be involved in folate metabolism. In some populations, the MTHFR gene has been associated with NTDs.[1] More recent studies have suggested that mutations in the CELSR1 and SCRIB genes may be associated with craniorachischisis specifically.[2]
Last updated: 11/5/2013

References
  1. Coskun A, Kiran G, Ozdemir O. Craniorachischisis totalis: a case report and review of the literature. Fetal Diagn Ther. 2009; 25(1):21-25. Accessed 11/5/2013.
  2. Robinson A. et al. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat. February 2012; 33(2):440-447. Accessed 11/5/2013.