$Unique_ID{BRK04334} $Pretitle{} $Title{Winchester Syndrome} $Subject{Winchester Syndrome Winchester-Grossman Syndrome Juvenile Arthritis Mucopolysaccharidosis } $Volume{} $Log{} Copyright (C) 1993 National Organization for Rare Disorders, Inc. 937: Winchester Syndrome ** IMPORTANT ** It is possible that the main title of the article (Winchester 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 Winchester-Grossman Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Juvenile Arthritis Mucopolysaccharidosis 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. Winchester Syndrome is a very rare disorder believed by some scientists to be closely related to the mucopolysaccharidoses which is a group of hereditary lysosomal storage disorders. Major symptoms of Winchester syndrome may include short stature, arthritis-like symptoms, eye and skin problems. Symptoms Winchester Syndrome is characterized by clouding of the cornea of the eyes, dwarfism, arthritis-like symptoms in the joints, thickening of the skin and the growth of abnormal amounts of hair on the thickened skin. The syndrome becomes apparent usually around the age of two years. The child's joints become stiffened and painful with swelling and redness. The areas affected most often are the fingers, elbows, knees and feet. The skin may become very thick and leathery with excessive amounts of hair growing in these areas along with a darker skin coloring. The lips and gums are thickened causing coarse facial features. As the child grows dwarfism becomes apparent. During later childhood or adulthood bones in the ankles and feet may weaken due to loss of calcium. The eyes may develop corneal opacities (a cloudy covering over the cornea) causing vision problems. The disorder leads to severe joint contractures but mental functioning is not affected. Causes Winchester Syndrome is a very rare disorder thought to be caused by autosomal recessive genes. Some scientists believe it is a very rare type of Mucopolysaccharidosis, because a form of carbohydrate, oligosaccharide, is lost in the urine of some Winchester patients. However, tests to prove this theory are not conclusive. The Mucopolysaccharidoses are a group of Lysosomal storage disorders. These illnesses are characterized by loss of saccharids in the urine and storage of these in some of the body's tissues such as the lips, gums, bones and skin. 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 recessive disorders, the condition does not appear unless a person inherits the same defective gene from the same trait 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 not show 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 Winchester Syndrome affects males and females in equal numbers. The medical literature has reported less than 10 people identified with Winchester Syndrome. They are of Mexican, Indian, Puerto Rican and Iranian decent. Other patients may be undiagnosed or misdiagnosed. Related Disorders Symptoms of the following disorders can be similar to those of Winchester Syndrome. Comparisons may be useful for a differential diagnosis: Juvenile Arthritis is a relatively rare childhood disorder characterized by pain and deformity of the joints. Major symptoms may include swollen and painful joints, fever, skin rash, swollen lymph glands, an enlarged spleen and liver. (For more information on this disorder, choose "Juvenile Arthritis" as your search term in the Rare Disease Database). The Mucopolysaccharidoses are a group of rare hereditary diseases of lysosomal storage. They are characterized by deposits of mucopolysaccharides in the arteries, skeleton, eyes, joints, ears, skin and teeth. Accumulation is especially noticed in the cartilage and bone tissue. The child may appear normal at birth and around the age of one begin to show signs of both growth and mental retardation. (For more information on this disorder, choose "Mucopolysaccharidoses" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Winchester Syndrome consists of physical therapy to help promote use of the affected limbs. The use of mobility devices may be required. Orthopedic procedures to decrease contractures may be of benefit. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through February 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 Winchester Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812 (203) 746-6518 Juvenile Arthritis Foundation 1314 Spring St., NW Atlanta, GA 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 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 MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1758 BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1781 THE SKIN IN THE WINCHESTER SYNDROME., A.H. Cohen, et al.; Arch Dermatol, February, 1975, (issue 111(2)). Pp. 230-236. TWO CASES OF WINCHESTER SYNDROME: WITH INCREASED URINARY OLIGOSACCHARIDE EXCRETION., D.B. Dunger, et al.; Eur J Pediatr, November, 1987, (issue 146 (6). Pp. 615-619. WINCHESTER SYNDROME: REPORT OF A CASE FROM IRAN. H. Nabai, et al.; J Cutan Pathol, October, 1977, (issue 4 (5)). Pp. 281-285.