$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.