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Craniorachischisis

Orpha number ORPHA63260
Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance
  • Multigenic/multifactorial
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • Q00.1
OMIM -
UMLS
  • C0152426
MeSH -
MedDRA
  • 10011321
SNOMED CT
  • 32219008

Summary

Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.

The prevalence is not known.

Craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal.

As with other neural tube defects, craniorachischisis is thought to be of multifactorial origin.

Antenatal diagnosis is possible by ultrasonographic monitoring.


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