CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0432/04320.txt

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$Unique_ID{BRK04320}
$Pretitle{}
$Title{Waardenburg Syndrome}
$Subject{Waardenburg Syndrome Klein-Waardenburg Syndrome Mende Syndrome
Ptosis-Epicanthus Syndrome Van der Hoeve-Halbertsma-Waardenburg-Gualdi
Syndrome Waardenburg-Klein Syndrome Waardenburg Syndrome Type I Waardenburg
Syndrome Type II Cutaneous Albinism and Deafness Cutaneous Albinism without
Deafness Harada Syndrome Vogt-Koyanagi Syndrome Cutaneous Albinism and
Deafness Cutaneous Albinism without Deafness Harada Syndrome Vogt-Koyanagi
Syndrome }
$Volume{}
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Copyright (C) 1987, 1988, 1989, 1993 National Organization for Rare
Disorders, Inc.

430:
Waardenburg Syndrome

** IMPORTANT **
It is possible the main title of the article (Waardenburg Syndrome) is
not the name you expected.  Please check the SYNONYMS listing on the next
page to find alternate names and disorder subdivisions covered by this
article.

Synonyms

     Klein-Waardenburg Syndrome
     Mende Syndrome
     Ptosis-Epicanthus Syndrome
     Van der Hoeve-Halbertsma-Waardenburg-Gualdi Syndrome
     Waardenburg-Klein Syndrome

DISORDER SUBDIVISIONS

     Waardenburg Syndrome Type I
     Waardenburg Syndrome Type II

The following disorders may be found in the Related Disorders section of
this report:

     Cutaneous Albinism and Deafness
     Cutaneous Albinism without Deafness
     Harada Syndrome
     Vogt-Koyanagi 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.


Waardenburg Syndrome is a hereditary disorder characterized by facial
abnormalities.  The inner folds of the eyelids or the tear duct may be
displaced, congenital nerve deafness may occur, and often abnormal
pigmentation of the iris of the eye, the skin, and/or the hair may be
present.

Type I of this disorder is characterized by displacement of the fold of
the eyelid, while type II does not include this feature.  However, the
frequency of deafness is higher in type II of the disorder.

Symptoms

Common symptoms of Waardenburg Syndrome include displacement of the inner
folds of the eyelids, prominence of the nose, and overdevelopment of the
eyebrows.   The patient may have two different colored eyes or two colors in
one iris.  Congenital nerve deafness may also occur.  A white forelock or
early graying of the hair characterizes this disorder.  The white forelock
may disappear by age 3 months and return later in childhood.

Other clinical findings include a thin nose with flaring nostrils, a
"cupid bow" configuration of the lips, wide-set eyes, inflammation of the
tear sac (dacryocystitis), and drooping of the upper eyelid (ptosis), lack of
an indent between the nose and the forehead, a prominent lower jaw, a cleft
or high-arched palate, patches of skin without pigment (vitiligo), and minor
skeletal abnormalities may also occur.  Marked degeneration of the nerve
cells and blood vessels within the cochlea of the middle ear (in the so-
called organ of Corti) may cause nerve deafness.  (For more information,
choose "Vitiligo" as your search term in the Rare Disease Database.)

Causes

Waardenburg Syndrome is a disorder inherited through dominant genes with
variable penetrance.  Within a family, all degrees of severity, from mild to
severe, may be encountered.  Alterations in PAX3, a gene found on chromosome
2, are responsible for the disorder.

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 dominant disorders, a single copy of the disease
gene (received from either the mother or father) will be expressed
"dominating" the normal gene and resulting in appearance of the disease.  The
risk of transmitting the disorder from affected parent to offspring is 50%
for each pregnancy regardless of the sex of the resulting child.

Variable penetrance means that manifestations of a particular disease may
not be present in all those who inherit the defective gene.

Affected Population

Waardenburg Syndrome occurs in 1 out of 4,000 live births.  It affects males
and females in equal numbers.

Related Disorders

The following disorders have symptoms similar to those of Waardenburg
Syndrome.  Comparisons may be useful for a differential diagnosis:

Albinism (Congenital Achromia; Hypopigmentation) is a group of syndromes
characterized by the congenital absence of pigment in the skin, hair, and
eyes, associated with other eye abnormalities.  Usually eye pigmentation is
affected without other facial abnormalities, although in some cases deafness
may occur.  (For more information on this disorder, choose "Albinism" as your
search term in the Rare Disease Database.)

Vogt-Koyanagi Syndrome (Uveo-oto-cutaneous Syndrome) is a disorder
characterized by symmetric white streaks in the hair.  Streaks of no pigment
may also appear on the hands, face, neck, and trunk (vitiligo).  Premature
graying of the hair, baldness, hearing impairment and tinnitus, bilateral
inflammation of the iris and the lens (uveitis), and inflammation of the
retina (retinitis) may occur.

The Harada Syndrome is similar to the Vogt-Koyanagi Syndrome, except for
a possible absence of the skin and hair symptoms.  The Harada Syndrome and
the Vogt-Koyanagi Syndrome affect mostly persons of Oriental heritage.  Hair
and skin lesions may disappear with time, and hearing and vision may recover
spontaneously (partially) in the Harada Syndrome.

Vitiligo is a dermatological condition characterized by an absence of
melanocytes (pigment-producing cells), causing decreased pigmentation in the
skin.  These symptoms can vary from one or two spots to generalized
depigmentation of the entire body.  (For more information on this disorder,
choose "vitiligo" as your search term in the Rare Disease Database.)

Therapies:  Standard

Treatment of Waardenburg Syndrome is symptomatic and supportive.  A hearing
aid, learning sign language and lip-reading techniques, and special schooling
may be helpful.  Surgical repair of cleft palate may also be necessary.
Genetic counseling may be helpful to families of children with Waardenburg
Syndrome.

Therapies:  Investigational

This disease entry is based upon medical information available through May
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 Waardenburg Syndrome, please contact:

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

     National Craniofacial Foundation
     3100 Carlisle St., Suite 215
     Dallas, TX  75204
     1-800-535-3643

     FACES
     National Association for the Craniofacially Handicapped
     Chattanooga, TN 37404
     [phone]

     NIH/National Institute of Dental Research
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

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

     Craniofacial Family Association
     170 Elizabeth Street, Suite 650
     Toronto, Ontario
     M5G1X8 Canada

     Alexander Graham Bell Association for the Deaf
     3417 Volta Place, NW
     Washington, DC  20007
     [phone]

     National Crisis Center for the Deaf
     University of Virginia Medical Center
     Charlottesville, VA  22908
     [phone]
     (Voice/TDD)

     Self-Help for Hard of Hearing People, Inc. (SHHH)
     7800 Wisconsin Avenue
     Bethesda, MD  20814
     [phone]

     National Information Center on Deafness
     Gallaudet College
     Kendall Green
     Washington, DC  20002
     (Voice & TDD) [phone]

     National Association of the Deaf
     814 Thayer Avenue
     Silver Spring, MD  20910
     [phone]

     Eye Research Institute of Retina Foundation
     20 Staniford St.
     Boston, MA  02114
     [phone]

     National Federation of the Blind
     1800 Johnson Street
     Baltimore, MD  21230
     [phone]

     American Council of the Blind (ACB)
     1211 Connecticut Ave., N.W., Suite 506
     Washington, DC  20036
     [phone]
     [phone]

     National Organization for Albinism and Hypopigmentation (NOAH)
     919 Walnut Street, Room 400
     Philadelphia, PA  19107
     [phone]

     National Vitiligo Foundation
     P.O. Box 6337
     Tyler, TX  75711
     [phone]

For genetic information and genetic counseling referrals, please contact:

     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

WAARDENBURG SYNDROME IN SOUTH AFRICA.  PART I.  AN EVALUATION OF THE CLINICAL
FINDINGS IN 11 FAMILIES:  M. de Saxe, et al.; South African Med J (August 18,
1984:  issue 66,7).  Pp. 256-261.

WAARDENBURG SYNDROME IN SOUTH AFRICA.  PART II:  IS THERE FOUNDER EFFECT
FOR TYPE I?:  M. de Saxe, et al.; South African Med J (August 25, 1984:  issue
66,8).  Pp. 291-293.

POSSIBLE WAARDENBURG SYNDROME WITH GASTROINTESTINAL ANOMALIES:  J.
Nutman, et al.; Journal Med Genet (April 1986:  issue 23,2).  Pp. 175-178.