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$Unique_ID{BRK04331}
$Pretitle{}
$Title{Williams Syndrome}
$Subject{Williams Syndrome Beuren's syndrome Early Hypercalcemia syndrome
Elfin Face Hypercalcemia-Supravalvar Aortic Stenosis Hypercalcemic Face
Infantile Hypercalcemia syndrome Idiopathic Williams-Beuren syndrome Noonan
Syndrome Idiopathic Infantile Hypercalcemia Supravalvar Aortic Stenosis}
$Volume{}
$Log{}
Copyright (C) 1986, 1987, 1988, 1989, 1992 National Organization for Rare
Disorders, Inc.
298:
Williams Syndrome
** IMPORTANT **
It is possible the main title of the article (Williams Syndrome) is not
the name you expected. Please check the SYNONYMS listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Beuren's syndrome
Early Hypercalcemia syndrome
Elfin Face
Hypercalcemia-Supravalvar Aortic Stenosis
Hypercalcemic Face
Infantile Hypercalcemia syndrome, Idiopathic
Williams-Beuren syndrome
Information can be found on the following disorders in the Related
Disorders section of this report.
Noonan Syndrome
Idiopathic Infantile Hypercalcemia
Supravalvar Aortic Stenosis
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.
Williams Syndrome is a rare congenital disorder characterized by
distinctive elfin facial features, extraordinarily sensitive hearing,
developmental delays, short stature, and an impulsive, outgoing personality.
Other symptoms, which may appear in some cases, include a star-like pattern
in the iris of the eye, low birth weight, heart disorders, elevated calcium
levels in the blood, hernias, learning disabilities, and/or possible mild
mental retardation.
Symptoms
Children born with Williams syndrome may exhibit the following symptoms:
1. Facial characteristics resemble an "elfin face", with a broad
forehead, upturned nose, wide mouth, full lips, widely spaced teeth, small
chin, puffiness around the eyes, a small head and depressed nasal bridge.
2. Hearing is apparently oversensitive. Patients with Williams syndrome
can overreact to loud and high-pitched sounds.
3. Motor development such as sitting, walking, language, gross and fine
motor skills may be delayed.
4. Personality is friendly and talkative. Children with Williams
syndrome seem unafraid of strangers. They have some attention problems and
are sometimes described as impulsive.
5. Children with blue or green eyes may have a star-like pattern in the
iris. Brown-eyed children with Williams syndrome usually don't display this
pattern.
6. Some children with Williams syndrome have a low birth weight and may
not thrive. Vomiting, gagging, diarrhea or constipation are common in
infancy.
7. Heart disorders may occur, ranging from slight murmurs to narrowing
(stenosis) of the aorta or the pulmonary veins.
8. The calcium level in the blood may be elevated. When this symptoms
occurs, it appears only during the first two months of life, then disappears.
9. Hernias at the navel (umbilical) or in the groin (inguinal) may occur.
10. Mild mental retardation may occur, but some children have average
intelligence with severe learning disabilities. They exhibit attention-
deficit behaviors, but generally have good long-term memory.
11. Premature puberty occurs in many of these children.
Causes
The exact cause of Williams Syndrome is unknown although in some cases it is
thought to be an autosomal dominant trait. (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
dominant disorders, a single copy of the disease gene (received from either
the mother or father) will be expressed "dominating" the normal gene and
resulting in appearance of the disease. The risk of transmitting the disorder
from affected parent to offspring is 50% for each pregnancy regardless of the
sex of the resulting child.)
Affected Population
Williams syndrome may affect infants of both sexes, and it occurs in all
races. This disorder occurs in about 1 in 20,000 births.
Related Disorders
Noonan Syndrome is an inherited disorder with widely variable symptoms whereas
Williams Syndrome may or may not be inherited. Patients may exhibit
distinctive facial characteristics at birth similar to those of Williams
Syndrome. Short stature and heart disease mark some cases in both disorders.
It is much less prevalent among Noonan patients. (For more information on
this disorder, choose "Noonan" as your search term in the Rare Disease
Database.
Idiopathic Infantile Hypercalcemia without any other symptoms is an
elevated calcium level in the blood, without a known cause. This occurs
during infancy.
Supravalvar Aortic Stenosis is the narrowing of the aorta occurring above
the aortic valve. This may occur alone, or in conjunction with other
disorders.
Therapies: Standard
When elevated calcium levels in the blood of affected infants occurs,
excessive Vitamin D in the diet should be avoided and calcium should be
restricted to 25 to 100 milligrams per day. For severe hypercalcemia,
hydrocortisone analog therapy may be considered on a temporary basis. An
endocrinologist should be consulted. After a child is a few months old,
calcium levels will return to normal even in untreated patients.
For the physical and mental developmental deficiencies, centers for
developmentally disabled children and special education services in schools
may be beneficial. Medical help from heart specialists and other physicians,
speech and language therapy, occupational and physical therapy, and vocational
training can all help children with Williams Syndrome to cope with their
handicaps.
Therapies: Investigational
The University of Nevada School of Medicine, The Indiana University School of
Medicine, and The Utah School of Medicine are studying blood samples in DNA
in a collaborative effort to locate the genes responsible for Williams
Syndrome and Supravalvular Aortic Stenosis. It is thought that these two
disorders may be closely linked. Researchers are collecting DNA from
children with Williams Syndrome and their parents. Interested families may
contact:
Dr. Colleen A. Morris
2040 W. Charleston Blvd., Suite 401
Las Vegas, NV 89102
(702) 385-5011
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 Williams Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Williams Syndrome Association
P.O. Box 3297
Ballwin, MO 63022-3297
Infantile Hypercalcaemia Foundation Ltd.
37 Mulberry Green
Old Harlow, Essex CM17 OE4
England
NIH/National Institute of Child Health and Human Development
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For information on genetics 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
FACTS ABOUT WILLIAMS SYNDROME: Williams Syndrome Association, 1984.
BIRTH DEFECTS COMPENDIUM, 2nd ed: Daniel Bergsma, ed; March of Dimes,
1979.
THE WILLIAMS SYNDROME ASSOCIATION NATIONAL NEWSLETTER, Volume 9, #1,
Spring 1992.