Craniorachischisis

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Craniorachischisis

  • Anal atresia
  • Congenital diaphragmatic hernia
  • Omphalocele
  • Spina bifida
  • Anencephaly
  • Myelomeningocele
  • Spinal dysraphism
  • Neural tube defect
  • Sirenomelia
  • Craniorachischisis

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Craniorachischisis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DACT1.

By Fulgent Genetics Fulgent Genetics (United States).

DACT1
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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