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$Unique_ID{BRK04334}
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$Title{Winchester Syndrome}
$Subject{Winchester Syndrome Winchester-Grossman Syndrome Juvenile Arthritis
Mucopolysaccharidosis }
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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
     [phone]

     Juvenile Arthritis Foundation
     1314 Spring St., NW
     Atlanta, GA 30309
     [phone]

     The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD 20815
     (800) 336-GENE
     [phone]

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.