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Genetic and Rare Diseases Information Center (GARD)

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What are the signs and symptoms of craniorachischisis?

Craniorachischisis is the most severe type of neural tube defect, in which almost the entire brain and spinal cord remain open. This means that an affected fetus has both anencephaly and spina bifida.[1][2] Other birth defects and underlying conditions have been reported in affected individuals, including trisomy 18 and pentalogy of Cantrell.[1] Fetuses with craniorachischisis often miscarry during the pregnancy or die shortly after birth.[2]
Last updated: 11/5/2013

  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. Johnson KM, Suarez L, Felkner MM, Hendricks K. Prevalence of craniorachischisis in a Texas-Mexico border population. Birth Defects Res A Clin Mol Teratol. February, 2004; 70(2):92-94. Accessed 11/5/2013.