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$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.