$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.