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- $Unique_ID{BRK03468}
- $Pretitle{}
- $Title{Anencephaly}
- $Subject{Anencephaly Spina Bifida}
- $Volume{}
- $Log{}
-
- Copyright (C) 1988, 1989, 1990, 1992 National Organization for Rare
- Disorders, Inc.
-
- 596:
- Anencephaly
-
- ** IMPORTANT **
- It is possible that the main title of this article (Anencephaly) is not
- the name you expected. Please check the SYNONYM list to find the alternate
- names and disorder subdivisions covered by this article.
-
- Synonyms
-
- Information on the following disorders can be found in the Related
- Disorders section of this report:
-
- Spina Bifida
-
- General Discussion
-
- ** REMINDER **
- The information contained in the Rare Disease Database is provided for
- educational purposes only. It should not be used for diagnostic or treatment
- purposes. If you wish to obtain more information about this disorder, please
- contact your physician and/or the agencies listed in the "Resources" section
- of this report.
-
-
- Anencephaly is characterized by the absence of the two hemispheres of the
- brain. The absent brain tissue is sometimes replaced by abnormal cystic
- nerve tissue, which may be either exposed or covered with skin.
- Additionally, varying portions of the brainstem and spinal cord may be
- missing or malformed.
-
- Symptoms
-
- In infants with Anencephaly basic functions such as movement are not possible
- because of the absence of brain tissue.
-
- Causes
-
- Anencephaly can be transmitted through autosomal recessive genes. (Human
- traits, including the classic genetic diseases, are the product of the
- interaction of two genes for that condition, one received from the father and
- one from the mother. In recessive disorders, the condition does not appear
- unless a person inherits the same defective gene for the same trait from each
- parent. If a person receives one normal gene and one gene for the disease,
- he or she will be a carrier for the disease, but usually will show no
- symptoms. The risk of transmitting the disease to the children of a couple,
- both of whom are carriers for a recessive disorder, is 25 percent. Fifty
- percent of their children will be carriers, but healthy as described above.
- Twenty-five percent of their children will receive both normal genes, one
- from each parent and will be genetically normal.) In other cases the cause
- is unknown.
-
- Affected Population
-
- Anencephaly affects males and females in equal numbers. The disorder starts
- during prenatal development of an affected baby.
-
- Related Disorders
-
- Symptoms of the following disorders can be similar to those of Anencephaly.
- Comparisons may be useful for a differential diagnosis:
-
- "Spina Bifida" is a term meaning "open (or nonfused) spine". Different
- forms of the disorder vary in severity, ranging from mild to severe. In
- Spina Bifida, one or more of the individual bones of the spine (vertebra)
- fail to close completely, leaving a cleft or defect in the spinal canal.
- Through such an abnormal opening, part of the contents of the spinal canal
- can protrude or herniate. This produces a sac filled with nerve tissue
- (meningocele or meningomyelocele). Children with Spina Bifida can often be
- helped by surgery, and mental functioning is not usually affected. (For more
- information, choose "Spina Bifida " as your search term in the Rare Disease
- Database.)
-
- Therapies: Standard
-
- The U.S. Public Health Service advises women of childbearing age to take 0.4
- mg of Folic Acid daily, either through diet or low dose supplements. Women
- are urged not to take more than 1.0 mg of folic acid daily unless advised by
- a physician because high doses of folic acid can mask other vitamin
- deficiencies.
-
- Treatment for Anencephaly consists in surgically closing any opening of
- the sac that normally encloses the brain. Usually children with this
- disorder do not survive more than a few days or weeks. Diagnosis can often
- be made before birth with the use of ultrasound examination. Other treatment
- is symptomatic and supportive.
-
- Therapies: Investigational
-
- This disease entry is based upon medical information available through
- December 1992. Since NORD's resources are limited, it is not possible to
- keep every entry in the Rare Disease Database completely current and
- accurate. Please check with the agencies listed in the Resources section for
- the most current information about this disorder.
-
- Resources
-
- For more information on Anencephaly, please contact;
-
- National Organization for Rare Disorders (NORD)
- P.O. Box 8923
- New Fairfield, CT 06812-1783
- (203) 746-6518
-
- Fighters for Encephaly Support
- 3032 Brereton Ave.
- Pittsburgh, PA 15219
- (412) 687-6437
-
- NIH/National Institute of Neurological Disorders & Stroke (NINDS)
- 9000 Rockville Pike
- Bethesda, MD 20892
- (301) 496-5751
- (800) 352-9424
-
- For Genetic Information and genetic counseling referrals, please contact:
-
- March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- (914) 428-7100
-
- Alliance of Genetic Support Groups
- 35 Wisconsin Circle, Suite 440
- Chevy Chase, MD 20815
- (800) 336-GENE
- (301) 652-5553
-
- References
-
- MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins
- University Press, 1986. P. 830.
-
- WHEN IS TERMINATION OF PREGNANCY DURING THE THIRD TRIMESTER MORALLY
- JUSTIFIABLE?: F.A. Chervenak, et al.; New England Journal Med (February 23,
- 1984: issue 310(8)). Pp. 501-504.
-
- DIAGNOSTIC EFFECTIVENESS OF ULTRASOUND IN DETECTION OF NEURAL TUBE
- DEFECT. THE SOUTH WALES EXPERIENCE OF 2509 SCANS (1977-1982) IN HIGH-RISK
- MOTHERS: C.J. Roberts, et al.; Lancet (November 5, 1983: issue 2(8358)).
- Pp. 1068-1069.
-
- NEURAL TUBE DEFECT-SPECIFIC ACETYLCHOLINESTERASE: ITS PROPERTIES AND
- QUANTITATION IN THE DETECTION OF ANENCEPHALY AND SPINA BIFIDA: J.R. Bonham,
- et al.; Clin Chim Acta (November 30, 1987: issue 170(1)). Pp. 69-77.
-
- LUNG GROWTH AND DEVELOPMENT IN ANENCEPHALY AND HYDRANENCEPHALY: T.P.
- Cooney, et al.; Am Rev Respir Dis (September 1985: issue 132(3)). Pp.596-
- 601.
-
- Morbidity and Mortality Weekly Report, September 11, 1991; 41: Suppl RR
- 14:1-7.
-
-