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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Craniorachischisis


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Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Craniorachischisis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Anencephaly 90%
Spina bifida 90%
Congenital diaphragmatic hernia 7.5%
Omphalocele 7.5%
Sirenomelia 7.5%
Urogenital fistula 7.5%

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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. 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.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.