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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: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q00.1
  • ICD-11: LA00.00
  • OMIM: -
  • UMLS: C0152426
  • MeSH: -
  • GARD: 10504
  • MedDRA: 10011321

Summary

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.

- Last update: January 2010

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.