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$Unique_ID{BRK04347}
$Pretitle{}
$Title{Zellweger Syndrome}
$Subject{Zellweger Syndrome Cerebrohepatorenal Syndrome Bowen Syndrome Benign
Congenital Hypotonia Nemaline Myopathy Infantile Muscular Atrophy }
$Volume{}
$Log{}
Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.
363:
Zellweger Syndrome
** IMPORTANT **
It is possible the main title of the article (Zellweger Syndrome) is not
the name you expected. Please check the SYNONYMS listing to find the
alternate names, disorder subdivisions, and related disorders covered by this
article.
Synonyms
Cerebrohepatorenal Syndrome
Bowen Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report:
Benign Congenital Hypotonia
Nemaline Myopathy
Infantile Muscular Atrophy
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.
Zellweger Syndrome is a rare hereditary disorder affecting infants. It
is characterized by reduction or absence peroxisomes in the cells of the
liver, kidneys and brain. Unusual problems in prenatal development, an
enlarged liver, high levels of iron and copper in the blood, and vision
disturbances are among the major manifestations of Zellweger Syndrome.
Symptoms
Infants with Zellweger Syndrome often exhibit prenatal growth failure in
spite of a normal period of gestation. This syndrome can often be recognized
at birth due to profound lack of muscle tone; some infants may be unable to
move. Other symptoms may include unusual facial characteristics, mental
retardation, the inability to suck and/or swallow, and liver enlargement.
Vision problems and congenital heart lesions occur less commonly. Jaundice
and/or gastrointestinal bleeding due to deficiency of a coagulation factor in
the blood can also occur. Pneumonia or respiratory distress may develop if
infections are not prevented or controlled.
Causes
Zellweger Syndrome is inherited as an autosomal recessive trait. A
deficiency or absence of microbodies known as peroxisomes cause the symptoms
of this disorder. The exact cause of the lack of these peroxisomes in the
tissue of the brain, liver and kidney is not yet known.
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.
Affected Population
Zellweger Syndrome is present at birth. One Australian study indicated that
it occurs once in 100,000 live births. However, more cases may have occurred
but gone undiagnosed.
Related Disorders
Benign Congenital Hypotonia is a nonprogressive neuromuscular disorder which
occurs at birth. This condition is characterized by decreased muscle tone
that is manifested as muscle weakness or "floppiness". The condition can
occur as a disorder of unknown cause, or as a symptom of other neuromuscular
diseases. (For more information on this disorder, choose "Benign Congenital
Hypotonia" as your search term in the Rare Disease Database).
Nemaline Myopathy is a hereditary muscular disease characterized by
weakness and "floppiness" of skeletal muscles. The disease derives its name
from the presence of very fine threads called "nemaline rods" in the
microscopic muscle fibers. (For more information on this disorder, choose
"Nemaline Myopathy" as your search term in the Rare Disease Database).
Infantile Muscular Atrophy is a severe and usually progressive
neuromuscular disorder in infants. It is characterized by a generalized
weakness of the muscles in the trunk and extremities. This disorder results
from degenerative changes in the central horn cells of the spinal cord. The
weakness, also referred to as "amyotonia congenital syndrome", can also be
found as a symptom of other neuromuscular disorders.
Therapies: Standard
Treatment of Zellweger Syndrome is symptomatic and supportive. Genetic
counseling can be of benefit to families of patients with this disorder.
Infections should be guarded against carefully to delay complications.
Therapies: Investigational
Treatment of Zellweger Syndrome using an antihyperlipidemic agent known as
Clofibrate has been tried. However, Clofibrate has not yet proven to be an
effective treatment for Zellweger Syndrome. Further research is ongoing
into the role of peroxisomes in producing this disease.
This disease entry is based upon medical information available through
February 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 Zellweger Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
(815) 896-3211
Muscular Dystrophy Association, National Office
3300 E. Sunrise Dr.
Tucson, AZ 85718
(602) 529-2000
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Association Europeenne contre les Leucodystrophies
7 Rue Pasteur
54000 NANCY
France
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
ZELLWEGER SYNDROME: DIAGNOSTIC ASSAYS, SYNDROME DELINEATION, AND POTENTIAL
THERAPY: G.N. Wilson, et. al.; Am J Med Genet (May 1986, issue 24(1)). Pp.
69-82.
UNSUCCESSFUL ATTEMPTS TO INDUCE PEROXISOMES IN TWO CASES OF ZELLWEGER
DISEASE BY TREATMENT WITH CLOFIBRATE: I. Bjorkhem, et. al.; Pediatr Res
(June 1985, issue 19(6)). Pp. 590-593.