NINDS Anencephaly Information Page: NINDS
Article title: NINDS Anencephaly Information Page: NINDS
Conditions: Anencephaly
What is Anencephaly?
Anencephaly is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings). The neural tube is a narrow sheath that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without both a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating area of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. The infant is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as respiration (breathing) and responses to sound or touch may occur. The cause of anencephaly is unknown. Although it is believed that the mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved.
Is there any
treatment?
There is no cure or standard treatment for anencephaly.
Treatment is supportive.
What is the prognosis?
The
prognosis for individuals with anencephaly is extremely poor. If the
infant is not stillborn, then he or she will usually die within a few
hours or days after birth.
What research is being
done?
The NINDS conducts and supports a wide range of studies that
explore the complex mechanisms of normal brain development. The knowledge
gained from these fundamental studies provides the foundation for
understanding how this process can go awry and, thus, offers hope for new
means to treat and prevent congenital brain disorders including neural
tube defects such as anencephaly.
Selected references
Berkow, R (ed).
The Merck Manual of Diagnosis and Therapy:
Specialties. vol. II, 16th edition, Merck & Co., Inc., Rahway, NJ, p.
307 (1992).
Bradley, W, et al (eds).
Neurology in Clinical Practice: The
Neurological Disorders. vol. II, 2nd edition, Butterworth-Heinemann,
Boston, p. 1473 (1996).
Lemire, R, and Siebert, J.
Anencephaly: Its Spectrum and
Relationship to Neural Tube Defects. Journal of Craniofacial Genetics and
Developmental Biology, 10;163-174 (1990).
Medical Task Force on Anencephaly.
The Infant with
Anencephaly. New England Journal of Medicine, 322:10; 669-674 (March 8,
1990).
Oakley, G, et al.
More Folic Acid for Everyone, Now. Journal
of Nutrition, 126:3; 751S-755S (March 1996).
Thomas, J, et al.
Anencephaly and Other Neural Tube Defects.
Frontiers of Neuroendocrinology, 15:2; 197-201 (June 1994).
Yen, I, et al.
The Changing Epidemiology of Neural Tube
Defects American Journal of Diseases of Children, 146:7; 857-861 (July
1992)
Anencephaly Support Foundation
20311 Sienna Pines Court
Spring, TX 77379
asf@asfhelp.com
http://www.asfhelp.com/
Tel:
888-206-7526
Association of Birth Defects Children
930 Woodcock Road
Suite 225
Orlando, FL 32803
http://www.birthdefects.org/
Tel:
407-895-0802 800-313-ABDC (2232)
Fax: 407-895-0824
March of Dimes Birth Defects Foundation
1275 Mamaroneck
Avenue
White Plains, NY 10605
resourcecenter@modimes.org
http://www.modimes.org/
Tel:
914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203
National Organization for Rare Disorders (NORD)
P.O. Box 8923
(100 Route 37)
New Fairfield, CT 06812-8923
orphan@rarediseases.org
http://www.rarediseases.org/
Tel:
203-746-6518 800-999-NORD (6673)
Fax: 203-746-6481
This fact sheet is in the public domain. You may copy it.Provided
by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD
20892
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