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Craniorachischisis
Disease definition
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.
ORPHA:63260
Classification level: DisorderSummary
Epidemiology
The prevalence is not known.
Clinical description
Craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal.
Etiology
As with other neural tube defects, craniorachischisis is thought to be of multifactorial origin.
Antenatal diagnosis
Antenatal diagnosis is possible by ultrasonographic monitoring.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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