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$Unique_ID{BRK04326}
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$Title{Weill-Marchesani Syndrome}
$Subject{Weill-Marchesani Syndrome Congenital Mesodermal Dysmorphodystrophy
Mesodermal Dysmorphodystrophy Brachymorphic Type Congenital
Spherophakia-Brachymorphia Syndrome Ectopia Lentis Kniest Syndrome }
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Copyright (C) 1992 National Organization for Rare Disorders, Inc.

893:
Weill-Marchesani Syndrome

** IMPORTANT **
It is possible that the main title of the article (Weill-Marchesani
Syndrome) is not the name you expected.  Please check the SYNONYMS listing to
find the alternate name and disorder subdivisions covered by this article.

Synonyms

     Congenital Mesodermal Dysmorphodystrophy
     Mesodermal Dysmorphodystrophy, Brachymorphic Type, Congenital
     Spherophakia-Brachymorphia Syndrome

Information on the following diseases can be found in the Related
Disorders section of this report:

     Ectopia Lentis
     Kniest Syndrome

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.

Weill-Marchesani Syndrome is a rare genetic disorder inherited as an
autosomal recessive trait.  The major features of this disorder are short
stature and a congenital vision defect in which the lens of the eye is
unusually rounded and may dislocate.

Symptoms

People with Weill-Marchesani Syndrome have a stocky build, tend to become
heavy, and have limbs that are short and round.  The face is full, with a
wide skull, short neck, depressed nasal bridge, and pug nose.  The orbit that
contains the eyeball is shallow, the lens in the eye is small and tends to
dislocate, and nearsightedness occurs.

Other symptoms found in some people with Weill-Marchesani Syndrome may
be:  joint stiffness with limited extension; an abnormal condition of high
pressure within the eye causing eye pain, blurred vision, and a wide-open
pupil (acute glaucoma); a condition in which the lens is dislocated (ectopia
lentis); mild underdevelopment of the jaw bone; a narrow roof of the mouth
(palate); teeth that do not form properly or do not conform to the dental
arch; and/or a sensation of numbness, tingling, burning, or pain in the hand
or wrist caused by compressing of peripheral nerves (Carpal Tunnel Syndrome).
(For more information on this disorder choose "Carpal Tunnel" as your search
term in the Rare Disease Database).  Blindness has occurred in some people
with Weill-Marchesani Syndrome.

Causes

Weill-Marchesani Syndrome is thought to be inherited as an autosomal
recessive trait with partial expression in the heterozygote.  Dominant
inheritance has also been suggested.

 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 dominant disorders a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the other normal
gene and resulting in the appearance of the disease.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene for 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.

Heterozygous is a condition in which a person has two different genes at
the same place on matched chromosomes.  An individual who is heterozygous for
a particular trait has inherited a gene for that trait from one parent and
the alternative gene from the other parent.  A person heterozygous for a
genetic disease caused by a dominant gene will show the disease.  An
individual heterozygous for a hereditary disorder produced by a recessive
gene will not show the disease or will have a milder form of it.  The
offspring of a heterozygous carrier of a genetic disorder will have a fifty
percent chance of inheriting the gene dominant for the trait.

Affected Population

Weill-Marchesani Syndrome is a rare disorder that affects males and females
in equal numbers.  This disorder has been found worldwide and affects
approximately one out of every one hundred thousand people.  The average age
for detection of Weill-Marchesani Syndrome is seven, even though symptoms of
the disorder are usually apparent earlier in life.

Related Disorders

Symptoms of the following disorders can be similar to those of Weill-
Marchesani Syndrome.  Comparisons may be useful for a differential diagnosis:

Ectopia Lentis is a congenital displacement of the lens of the eye.  This
disorder may occur alone or as a part of other disorders.  When Ectopia
Lentis occurs alone it is inherited as an autosomal dominant trait.  The
dislocation of the lens of the eye may be present at birth or occur later.
Some people with Ectopia Lentis have no symptoms at all while others may have
poor vision and/or double vision.

Kniest Syndrome is a rare type of dwarfism that is characterized by
unusually short arms and legs, a round face with hollow or depressed areas,
swelling and stiffness of the joints, and a stiff drawing up (contractures)
of the fingers.  A cleft palate, curvature of the spine (scoliosis), vision
and hearing problems may also occur.  (For more information on this disorder,
choose "Kniest Syndrome" as your search term in the Rare Disease Database).

Therapies:  Standard

Treatment with drugs or eye drops may help to reduce the pressure within the
eyeball of people with Weill-Marchesani Syndrome.

Surgery may be performed to create a new outflow channel for the fluid
causing pressure behind the eye or the lens may be removed when glaucoma is
present.

Patients with Carpal Tunnel Syndrome may be treated with steroidal and
non-steroidal medications when the symptoms are mild.  Splinting to
immobilize the wrist is often recommended.  When the symptoms are severe and
conservative measures fail, surgical decompression of the carpal canal in the
wrist can be performed.  If pressure on the median nerve has persisted for a
prolonged period of time, recovery may be incomplete.

Genetic counseling may be of benefit for patients with Weill-Marchesani
Syndrome and their families.

Therapies:  Investigational

Research on birth defects and their causes is ongoing.  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 1992.  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 Weill-Marshall Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     NIH/National Eye Institute
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     The Magic Foundation
     1327 N. Harlem Ave.
     Oak Park, IL  60302
     [phone]

     Human Growth Foundation (HGF)
     7777 Leesburg Pike
     P.O. Box 3090
     Falls Church, VA  22043
     [phone]
     [phone]

     Little People of America
     P.O. Box 633
     San Bruno, CA  94066
     [phone]

     American Carpal Tunnel Syndrome Association
     P.O. Box 514
     Santa Rosa, CA  95402-0514
     [phone]

     NIH/National Institute of Child Health and Human Development (NICHD)
     9000 Rockville Pike
     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, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 1532.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  Pp. 397.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1575.

THE WEILL-MARCHESANI SYNDROME:  REPORT OF TWO CASES AND A REVIEW:  G.M.
Haik Sr, et al.;  J La State Med Soc (December, 1990, issue 142(12)).  Pp.
25-8, 30-2.