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$Unique_ID{BRK04328}
$Pretitle{}
$Title{Werner Syndrome}
$Subject{Werner Syndrome Progeria of Adulthood progeria Werner's mesomelic
dwarfism }
$Volume{}
$Log{}
Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.
135:
Werner Syndrome
** IMPORTANT **
It is possible that the main title of the article (Werner Syndrome) is
not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Progeria of Adulthood
Please note: Werner syndrome also refers to a form of dwarfism that is
unrelated to progeria. It is known as Werner's mesomelic dwarfism.
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.
Werner syndrome is a rare form of premature ageing which begins in early
adulthood. It affects both males and females.
Symptoms
Werner syndrome progresses steadily. Affected individuals appear normal
until adolescence, when developmental retardation begins. Stature remains
short, and sexual organs fail to complete normal enlargement and development.
Secondary sex characteristics such as pubic, axillary, and facial hair are
absent or regress.
Other abnormalities of Werner syndrome also appear during adolescence or
young adulthood. The limbs are thin and weak, with small hands and feet, and
short, deformed fingers. Typical facial characteristics include a beaked
nose, prominent eyes, thinned eyebrows and lashes, grey hair, and,
eventually, baldness. The torso tends to be stocky, but elsewhere, muscular
mass and subcutaneous fat are lost, allowing the skeleton to become
prominent.
The skin becomes shiny and taut, with sclerodermatoid changes; these
consist of a chronic hardening and shrinking of the connective tissues, so
that the skin becomes hard, thickened, and rigid. Sometimes the disorder
resembles scleroderma, but it can be differentiated by the fact that mainly
males are affected, its early onset and clinical course (premature ageing
changes).
Other features include arteriosclerosis, the frequent development of
cataracts before the age of forty years, a susceptibility to ulcerations on
the legs, and diabetes mellitus. Soft tissues atrophy, while the bones
become thin, fragile, and often painful and deformed due to osteoporosis, or
demineralization. There may be osteoarthritis. Calcification occurs in the
extremities and the heart, particularly the valves and coronary arteries.
Other potentially fatal complications include cerebral stroke and cancers.
Werner syndrome can occur in partial forms, exhibiting only a few of the
symptoms described, and having a milder, slower course.
Causes
Werner syndrome appears to be hereditary, with an autosomal recessive mode of
transmission. (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 from each
parent. If one receives one normal gene and one gene for the disease, the
person 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 twenty-five 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.) Another theory is that
spontaneous loss, or deletion, of chromosomal (chromosomal instability) is
responsible for the premature aging that occurs in Werner Syndrome.
The biochemical defect(s) responsible for Werner syndrome are not known.
Faulty metabolism of steroids, such as certain hormones, bile acids, and
cholesterol may be involved.
Affected Population
Males and females over the age of about fourteen years are affected with
Werner's syndrome.
Related Disorders
Hutchinson-Gilford syndrome is a similar syndrome with onset in early
childhood. In Gottron syndrome, only the extremities are affected. (For
more information on Hutchinson-Gilford syndrome and Gottron syndrome, choose
"hutchinson" and "gottron" as your search terms in the Rare Disease
Database.)
Therapies: Standard
Available treatments for Werner syndrome are supportive and symptomatic.
They include surgery for cataracts, skin grafting for ulcerations, etc.
Therapies: Investigational
This disease entry is based upon medical information available through
January 1990. 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 Werner Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The Progeria International Registry (PIR)
New York State Institute for Basic Research in Developmental Disabilities
1050 Forest Hill Road
Staten Island, NY 10304
(718) 494-0600
Progeria Foundation
3 Styvesant Oval, 9A
New York, NY 10009
The National Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
References
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1202.
Dr. Raymond Monnat and Dr. George M. Martin, Department of Pathology,
University of Washington, Seattle, WA.