$Unique_ID{BRK03519} $Pretitle{} $Title{Beckwith-Wiedemann Syndrome} $Subject{Beckwith-Wiedemann Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Beckwith-Syndrome EMG Syndrome Macroglossia-Omphalocele-Visceromegaly Syndrome Omphalocele-Visceromegaly-Macroglossia Syndrome Visceromegaly-Umbilical Hernia-Macroglossia Syndrome Wiedmann-Beckwith Syndrome Beckwith-Wiedemann Chromosome Region BWCR Hypoglycemia with Macroglossia} $Volume{} $Log{} Copyright (C) 1985, 1988, 1989, 1990, 1993 National Organization for Rare Disorders, Inc. 52: Beckwith-Wiedemann Syndrome ** IMPORTANT ** It is possible that the main title of the article (Beckwith-Wiedemann Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms BWS Exomphalos-Macroglossia-Gigantism Syndrome Beckwith-Syndrome EMG Syndrome Macroglossia-Omphalocele-Visceromegaly Syndrome Omphalocele-Visceromegaly-Macroglossia Syndrome Visceromegaly-Umbilical Hernia-Macroglossia Syndrome Wiedmann-Beckwith Syndrome Beckwith-Wiedemann Chromosome Region BWCR Hypoglycemia with Macroglossia 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 personal physician and/or the agencies listed in the "Resources" section of this report. Beckwith-Wiedemann Syndrome is a rare congenital disorder characterized by an abnormally enlarged tongue (macroglossia), an opening in the abdominal wall through which the organs of the abdomen may protrude (omphalocele), excessive size and height (macrosomia), and unusual ear creases. Symptoms Although some patients with Beckwith-Wiedemann Syndrome have few or no symptoms, a variety of symptoms are possible. Infants with this disorder usually have an opening in the abdominal wall through which abdominal organs may protrude (omphalocele). An abnormally enlarged tongue (macroglossia) may cause feeding and breathing difficulties. About one-third of the children with Beckwith-Wiedemann Syndrome have abnormally low blood sugar (hypoglycemia) that requires immediate treatment to prevent neurological complications. Other symptoms may include mild-to-moderate mental retardation, an abnormal increase in the number of red blood cells (polycythemia), and/or an unusually small head (microcephaly). Other characteristics of Beckwith-Wiedemann Syndrome may include unusual enlargement of one side of the face (hemihypertrophy), and unusual facial features such as ear deformities, small facial features (facial hypoplasia), a bulging forehead (frontal bossing), and/or facial moles. Some children with this disorder may also have an abnormally large heart (cardiomegaly). In some male children with Beckwith-Wiedemann Syndrome, one or both of the testicles may fail to descend into the scrotum (cryptorchidism). Females with this disorder may have an enlarged clitoris, uterus, and/or bladder. Approximately 5 to 10 percent of children with Beckwith-Wiedemann Syndrome may develop malignant tumors. These tumors may include Wilms tumor (a rapidly developing tumor of the kidneys), adrenocortical carcinoma (cancer in the outer layers of the adrenal glands), cancer in the cells that form the liver (hepatoblastoma), a fast growing tumor of the long muscles (rhabdomyosarcoma), tumor of the ovaries or testes (gonadoblastoma), and cancer of the cells of the nervous system (neuroblastoma). Benign (noncancerous) tumors may also occur in children with Beckwith- Wiedemann and can include adenoma of the adrenal cortex, cardiac hamartoma, umbilical myxoma, and ganglioneuroma. As children with Beckwith-Wiedemann Syndrome grow older, the characteristics of the disorder may become less noticeable. The excessive rate of growth that characterizes this syndrome in early childhood often slows after the first few years of life. Causes Beckwith-Wiedemann Syndrome is inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. The defective gene that causes Beckwith-Wiedemann Syndrome has been located on the short arm of chromosome 11 (location 11p15). Chromosomal studies have revealed that there are carriers of the gene who show no symptoms of the disorder. In some rare cases of Beckwith-Wiedemann Syndrome, testing of the genetic material (DNA marker studies) of infants with this disorder has revealed that the infant inherited both of their 15th chromosomes from the mother (maternal uniparental disomy). Uniparental disomy is a condition in which both chromosomes are inherited from the same parent, in this case the mother. In genetics, human traits are the product of two genes, one inherited from the father and one from the mother. Scientists do not understand why uniparental disomy occurs in some people. Affected Population Beckwith-Wiedemann Syndrome is a very rare disorder that affects males and females in equal numbers. Over 200 cases of this disorder have been reported in the medical literature since 1963. Therapies: Standard Treatment of Beckwith-Wiedemann Syndrome may include surgery to repair intestines that protrude through the abdominal wall (omphalocele), and/or abnormal urethral openings (hypospadias). If malignant or benign tumors develop, they must be treated and/or removed through surgery. When a newborn has abnormally low blood sugar (hypoglycemia), it is treated through the administration of intravenous glucose. If left untreated, hypoglycemia can cause mental retardation and it may be life-threatening. Children with Beckwith-Wiedemann Syndrome should be monitored every three months for the growth of internal organs and for the appearance of tumors. This may be done by abdominal ultrasound examination. Levels of alpha- fetoprotein should be monitored until the child is approximately 7 years old. Alpha-fetoprotein is a protein in the blood that is manufactured by the liver and gastrointestinal tract; levels may become elevated when certain malignancies begin to grow. Therapies: Investigational Research is ongoing into the causes of Beckwith-Wiedemann Syndrome. Genetic studies, parental age factors, proportion of sporadic nonhereditary cases, and the relationship between tumor development and other features of this disorder are being studied. Efforts are underway to clone the gene for this disorder so scientists can determine what the gene does or doesn't do properly. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. This disease entry is based upon medical information available through January 1993. 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 Beckwith-Wiedemann Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Beckwith-Wiedemann Support Group 3206 Braeburn Circle Ann Arbor, MI 48108 (313) 973-0263 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Barbara Biesecker, Genetic Counselor Pediatrics and Communicable Diseases Dept. University of Michigan Medical School C1109 MPH, Box 0718 Ann Arbor, MI 48109 For Genetic Information and Genetic Counseling Referrals: 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 PATHOBIOLOGY OF DEVELOPMENT Perrin, E.V. eds. Baltimore, Williams, and Wilkins 1973. P. 135. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 345-348. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 218-219. MACROGLOSSIA, ADRENAL CYTOMEGALY, GIGANTISM, AND HYPERPLASTIC VISCEROMEGALY. Beckwith, J.E., Birth Defects (February, 1969, issue 5(2)). Pp. 188-196. GENETIC LINKAGE OF BECKWITH-WIEDEMANN SYNDROME TO 11p15. Ping, A.J. et al,; Am J Hum Genet (issue 44, 1989). Pp. 720-723. NEUROBLASTOMA ASSOCIATED WITH BECKWITH-WIEDEMANN SYNDROME. L.G. Emery, et al.; Cancer (1983; 52). Pp. 17-179. BECKWITH-WIEDEMANN SYNDROME: A DEMONSTRATION OF THE MECHANISMS RESPONSIBLE FOR THE EXCESS OF TRANSMITTING FEMALES. C. Mantou et al.; J Med Genet (April 1992 (29(4)). Pp. 217-220.