Craniorachischisis

Definition

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.

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

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.
• Other birth defects and underlying conditions have been reported in affected individuals, including trisomy 18 and pentalogy of Cantrell.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Anencephaly
• Cervical spina bifida
• Myelomeningocele

5%-29% of people have these symptoms

• Anal atresia(Absent anus)
• Bifid sternum
• Congenital diaphragmatic hernia
• Omphalocele
• Sirenomelia

Treatment

Fetuses with craniorachischisis often miscarry during pregnancy or die shortly after birth.

NIH genetic and rare disease info

• NIH info on Craniorachischisis

Craniorachischisis is a rare disease.

Craniorachischisis Resources
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