Neural Tube Defects

Reference work entry

Neural tube defects (NTDs) are among the most common severe congenital malformations of the central nervous system. Approximately 1 in 500 to 1 in 1,000 pregnancies result in NTDs. About 4,000 fetuses are affected each year in the USA. The incidence varies with geographic areas and ethnic groups. The incidence, however, appears to be decreasing recently.

Synonyms and Related Disorders

Anencephaly; Cranial meningocele; Cranio/spinal rachischisis; Cranium bifidum occultum; Encephalocele; Iniencephaly; Spina bifida

Genetics/Basic Defects

  1. 1.

    Caused by a defect in closure of the neural tube, which is normally closed by 28 days

  2. 2.

    Etiology: complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype.

  3. 3.
    Specific causes are identified in less than 10% of affected infants.
    1. a.

      Chromosomal abnormalities

    2. b.

      Single gene mutations

    3. c.


  4. 4.

    Defects in the neural tube closure linked to...


Spina Bifida Neural Tube Defect Club Foot Folic Acid Supplementation Dermoid Cyst 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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