Craniorachischisis

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Craniorachischisis

ORPHA:63260Morphological anomaly

What it is

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.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Multigenic/multifactorial, Not applicable
Classified as
Morphological anomaly

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

DACT1Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

Q00.1ICD-10 names this disease exactly

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10504MEDDRA 10011321MONDO 0018969UMLS C0152426

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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