Craniorachischisis

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Craniorachischisis (pronunciation: /ˌkreɪni.oʊrækɪˈskiːsɪs/) is a severe birth defect where a baby's skull, spine, and spinal cord do not develop properly. It is a type of neural tube defect (NTD) and is characterized by anencephaly (absence of the brain and skull) and spina bifida (incomplete closing of the spine).

Etymology

The term "Craniorachischisis" is derived from the Greek words "kranion" (skull), "rhachis" (spine), and "schisis" (split), literally meaning "split skull and spine".

Causes

Craniorachischisis is caused by a failure in the neurulation process during the early stages of embryonic development. This failure results in the neural tube not closing completely, leading to the exposure of the brain and spinal cord. The exact cause of this failure is not known, but it is believed to be a combination of genetic and environmental factors.

Symptoms

The symptoms of craniorachischisis are severe and often fatal. They include anencephaly, where the baby is born without parts of the brain and skull, and spina bifida, where the spine and spinal cord do not close completely. Other symptoms can include hydrocephalus (build-up of fluid in the brain), motor and sensory impairments, and incontinence.

Treatment

There is currently no cure for craniorachischisis. Treatment is supportive and aims to manage symptoms. This can include surgery to close the spinal defect, shunting to manage hydrocephalus, and physical and occupational therapy to manage motor and sensory impairments.

See also

External links

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