Rare Hematology News

Disease Profile

Craniorachischisis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q00.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Craniorachischisis is the most severe type of neural tube defect in which both the brain and spinal cord remain open; both anencephaly and spina bifida (from the cervical region to the lumbar or sacral region of the spine) are present.[1][2] Fetuses with craniorachischisis often miscarry during pregnancy or die shortly after birth.[2] The cause is thought to be multifactorial, which means that a combination of genetic and non-genetic factors play a role.[1]

Symptoms

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.[3][2] Other birth defects and underlying conditions have been reported in affected individuals, including trisomy 18 and pentalogy of Cantrell.[3] Fetuses with craniorachischisis often miscarry during the pregnancy or die shortly after birth.[2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anencephaly
0002323
Cervical spina bifida
0005857
Myelomeningocele
0002475
5%-29% of people have these symptoms
Anal atresia
Absent anus
0002023
Bifid sternum
0010309
Congenital diaphragmatic hernia
0000776
Omphalocele
0001539
Sirenomelia
0010497

Cause

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.[3] More recent studies have suggested that mutations in the CELSR1 and SCRIB genes may be associated with craniorachischisis specifically.[4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Craniorachischisis. Click on the link to view a sample search on this topic.

      References

      1. Craniorachischisis. Orphanet. January, 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=63260. Accessed 11/4/2013.
      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.
      3. 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.
      4. 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.

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