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It is possible that the main title of the report Anencephaly is not the name you expected.
Anencephaly is a term that refers to the incomplete development of the brain, skull, and scalp and is part of a group of birth defects called neural tube defects (NTD). The structure which will become the neural tube is supposed to fold and to close together (to form a tube) during the third and fourth weeks of pregnancy. From this neural tube, the brain and spinal cord of the embryo develop. Neural tube defects happen when the neural tube does not close as expected. Anencephaly occurs when the end of the neural tube that would have developed into the brain does not close properly, resulting in the failure of the development of major portions of brain, skull and scalp. Other neural tube defects, such as spina bifida, form when the neural tube does not close properly in a different part of the neural tube.
Infants with anencephaly are born without the front part of the brain, (forebrain) and the thinking and coordinating part of the brain (cerebral hemispheres and cerebellum). Most of the time the remaining brain tissue may be exposed, without skull or scalp to cover and protect it. Although reflex actions such as breathing and responses to touch or sound may occur, gaining consciousness is not possible. Usually infants with anencephaly do not survive more than a few days or weeks.
Meroanencephaly and holoanencephaly are terms refer to the extent of the cranial defect, however, they typically are not used in clinical descriptions and are not predictive of severity of the condition. The term acrania has been used interchangeably with anencephaly in some parts of the world but that practice is discouraged as it confuses two very different conditions.
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Orlando, FL 32814
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Infants Remembered In Silence, Inc. (IRIS)
112 Third Street NE
Faribault, MN 55021
Fetal Hope Foundation
9786 South Holland Street
Littleton, CO 80127
Share Pregnancy & Infant Loss Support, Inc.
402 Jackson Street
Saint Charles, MO 63301
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 8/1/2012
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