CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0375/03753.txt

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$Unique_ID{BRK03753}
$Pretitle{}
$Title{Fraser Syndrome}
$Subject{Fraser Syndrome Cryptophthalmos-Syndactyly Syndrome Renal Agenesis
Bilateral Cat-Eye Syndrome Melnick-Fraser Syndrome}
$Volume{}
$Log{}

Copyright (C) 1989 National Organization for Rare Disorders, Inc.

739:
Fraser Syndrome

** IMPORTANT **
It is possible that the main title of the article (Fraser 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

     Cryptophthalmos-Syndactyly Syndrome

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

     Renal Agenesis, Bilateral
     Cat-Eye Syndrome
     Melnick-Fraser 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.

Fraser Syndrome is a rare genetic disorder characterized by multiple
physical abnormalities, malformed or missing kidneys, and incomplete
development of the sexual organs.

Symptoms

Fraser Syndrome is characterized by multiple physical abnormalities.  These
may include eye defects with complete fusion of the eyelids
(cryptophthalmos), malformed or missing kidneys (renal agenesis), partial
fusion of the fingers and toes (syndactyly) and middle and outer ear
deformities.  The nose is usually broad with a flattened bridge and deep
indentations on the side of each nostril.  Other characteristics may include
hair growth that extends from the forehead to the eyebrows, high or cleft
palate, malformation of the eyelid ducts that convey tears, a displaced
navel, malformed or missing larynx, widely spaced nipples, malformation of
the pubic bones and mental deficiency.

Incomplete development of the genitals may be symptomatic of this
syndrome.  In males there may be an abnormal opening of the urethra on the
underside of the penis, or failure of the testicles to descend into the
scrotum (cryptorchidism).  In females there may be a single or double uterus
with horn-like extensions (bicornuate uterus), an enlarged clitoris
(clitoromegaly), malformed fallopian tubes or a fusion of the vaginal opening
(labia).

Causes

Fraser Syndrome is an autosomal recessive genetic disorder.  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 for the same trait from each parent.  If a person 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

Fraser Syndrome affects males and females in equal numbers.

Related Disorders

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

Bilateral Renal Agenesis is the absence of both kidneys at birth.  It is
a genetic disorder characterized by a failure of the kidneys to develop in a
fetus.  This absence of kidneys causes a deficiency of amniotic fluid in a
pregnant woman.  Normally the amniotic fluid acts as a cushion for the
developing fetus.  When there is an insufficient amount of this fluid,
compression of the fetus may occur resulting in further malformations of the
baby.  (For more information on this disorder, choose "Bilateral Agenesis" as
your search term in the Rare Disease Database.)

Cat-Eye Syndrome (Coloboma of Iris-Anal Atresis Syndrome), is a disorder
which is characterized by a fissure in the iris of the eye and the absence of
an anal opening.  Other abnormalities may include missing kidneys (renal
agenesis).

Melnick-Fraser Syndrome (Branchio-Oto-Renal Syndrome) is a genetic
disorder characterized by hearing loss and kidney malformations, including
renal agenesis.

Therapies:  Standard

Treatment of Fraser Syndrome may include surgery to correct some of the
malformations associated with this disorder.  Other treatment is symptomatic
and supportive.  Genetic counseling may be of benefit for families of
children with this disorder.

Therapies:  Investigational

This disease entry is based upon medical information available through
January 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 Fraser Syndrome, please contact:

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

     NIH/National Institute of Child Health & Human Development
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     National Kidney Foundation
     2 Park Avenue
     New York, NY 10016
     [phone]
     [phone]

     American Kidney Fund
     6110 Executive Blvd., Suite 1010
     Rockville, MD  20852
     [phone]
     [phone]
     [phone] (In MD)

     Forward Face
     560 First Ave.
     New York, NY  10016
     [phone]
     (800) 422-FACE

     National Craniofacial Foundation
     3100 Carlisle Street, Suite 215
     Dallas, TX 75204
     [phone]

     National Association for the Craniofacially Handicapped
     P.O. Box 11082
     Chattanooga, TN  37401
     [phone]

     National Foundation for Facial Reconstruction
     550 First Street
     New York, NY  11016
     [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, 8th ed.:  Victor a McKusick; Johns Hopkins
University Press, 1986.  Pp. 882.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L.
Jones, M.D.; W.B. Saunders Co.  1988.  Pp. 204.

THE CLINICAL SPECTRUM OF THE FRASER SYNDROME:  REPORT OF THREE NEW CASES
AND REVIEW.  J. Gattuso, et al.; J MED GENET (September 1987, issue 24 (9)).
Pp. 549-555.

FRASER SYNDROME (CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME):  A REVIEW OF
ELEVEN CASES WITH POSTMORTEM FINDINGS.  P. Boyd et al.; AM J MED GENET
(September 1988, issue 31 (1)).  Pp. 159-168.

ENT ABNORMALITIES ASSOCIATED WITH FRASER SYNDROME:  CASE REPORT AND
LITERATURE REVIEW.  M. Mina et al.;  J OTOLARYNGOL (August 1988, issue 17
(5)).  Pp 233-236.