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$Unique_ID{BRK03778}
$Pretitle{}
$Title{Goldenhar Syndrome}
$Subject{Goldenhar Syndrome Goldenhar-Gorlin Syndrome OAV Syndrome Dysostosis
mandibulofacial with epibulbar dermoids Mandibulofacial dysostosis-epibulbar
dermoids Oculoauriculovertebral dysplasia Facioauriculovertebral anomaly
Oculovertebral dysplasia Auriculovertebral Syndrome Facio-Auriculo-Vertebral
Spectrum Spina Bifida Treacher-Collins Syndrome}
$Volume{}
$Log{}
Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.
346:
Goldenhar Syndrome
** IMPORTANT **
It is possible the main title of the article (Goldenhar Syndrome) is not
the name you expected. Please check the SYNONYMS listing to find the
alternate names, disorder subdivisions, and related disorders covered by
this article.
Synonyms
Goldenhar-Gorlin Syndrome
OAV Syndrome
Dysostosis, mandibulofacial with epibulbar dermoids
Mandibulofacial dysostosis-epibulbar dermoids
Oculoauriculovertebral dysplasia
Facioauriculovertebral anomaly
Oculovertebral dysplasia
Auriculovertebral Syndrome
Facio-Auriculo-Vertebral Spectrum
Information about the following diseases can be found in the Related
Disorders section of this report:
Treacher-Collins Syndrome
Spina Bifida
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.
Goldenhar Syndrome is a group of symptoms involving craniofacial and
spinal bone (vertebral) malformations that are present at birth. Seventy
percent of those affected are males. Various degrees of hearing and/or
vision loss with associated speech and feeding difficulties may be expected
in Goldenhar Syndrome. Moderate mental retardation may occur in
approximately ten percent of cases. The prognosis is generally good. A
normal life span can be expected by those affected with this congenital
disorder.
Symptoms
The primary symptoms of Goldenhar Syndrome involve unusual facial
characteristics. The facial structure of people with Goldenhar Syndrome may
include partial absence of the upper eyelid or an unusual slant of the
eyelid, abnormal shape of the skull (asymmetry), the forehead may be sharply
prominent, the nostrils may be absent or closed, the roof of the mouth may be
abnormally structured (cleft palate), and there may be abnormal growth of the
jaw. Paralysis of the eye muscles (ophthalmoplegia) may also occur. Other
symptoms may include skin-like cysts on the eyeballs (epibulbar dermoids),
cysts in fatty tissue (lipodermoids) at the edge of the eye, and unusual skin
growths on the ears (auricular appendices in the form of ear tags).
Spinal column (vertebrae) abnormalities may include fusion of the top of
the spine to the lower edge of the skull, spina bifida, incomplete
development of one side of the spinal column and more than the normal number
of vertebrae.
Causes
The exact cause of Goldenhar Syndrome is unknown. It is considered to be a
birth defect caused by unknown disturbances in fetal development.
Affected Population
Goldenhar Syndrome is present at birth. Approximately seventy percent of
cases occur in males. It is a very rare congenital disorder.
Related Disorders
Treacher-Collins Syndrome is a hereditary disorder transmitted as a dominant
trait. This disorder involves arrested jaw development causing obstruction
of the pharynx by the tongue, which can result in difficulty breathing.
Treacher-Collins Syndrome is marked by defects in development of certain
areas of the prenatal brain. The prognosis for this disorder is good. (For
more information on this disorder, Choose "Treacher-Collins" as your search
term in the Rare Disease Database.)
"Spina Bifida" is a term meaning "open (or nonfused) spine". The term
includes multiple entities with varying problems. In spina bifida, one or
more of the individual bones of the spine fail to close completely, leaving a
cleft or defect in the spinal canal. Through this abnormal opening part of
the contents of the spinal canal can protrude or herniate. This produces a
meningocele or a meningomyelocele. (For more information on this disorder,
choose "Spina Bifida" as your search term in the Rare Disease Database).
Therapies: Standard
Goldenhar Syndrome is treated with surgery to correct the spinal and/or
facial deformities. Continuous medical evaluation is useful to determine
which form of surgery may be appropriate at different ages in a patients
life. Associated speech-language therapy and special education services may
be of benefit to children with Goldenhar Syndrome. Additionally, supportive
counseling may be necessary to help a child cope with the social stigma of
living with a facial handicap.
Therapies: Investigational
Advances in tissue and bone grafts are under investigation which may be
useful in treating patients with Goldenhar Syndrome. For more information on
organizations which monitor these advances, please see the Resources section
of this report.
This disease entry is based upon medical information available through
September 1989. 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 Goldenhar Syndrome, please contact
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
Orafacial Outreach
13962 Wake Ave.
Irvine, CA 92718
(714) 651-6151
The Hemifacial Microsomia Family Support Network
84 Glennifer Hill Rd.
Richboro, PA 19854
(215) 364-3199
or
The Hemifacial Microsomia/Goldenhar Syndrome Family Support Network
RR #2, Box 248
Nicholson, PA 18446
(717) 942-6171
International Center for Skeletal Dysplasia
St. Joseph Hospital
7620 York Road
Towson, MD 21204
(301) 337-1250
Society for the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
New York, NY 10016
(212) 340-5400
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
National Craniofacial Foundation
3100 Carlisle Street, Suite 215
Dallas, TX 75204
1-800-535-3643
Orofacial Guild
3144 E. Jacarda
Orange, CA 92667
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
About Face
99 Crowns Lane
Toronto, Ontario M6R 3PA
Canada
(416) 944-3223
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
For information on genetics and genetic counseling referrals, please
contact:
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
GOLDENHAR'S SYNDROME: A CASE STUDY: L. Belenchia; J Commun Disord (October
1985, issue 18(5)). Pp. 383-392.
CONGENITAL ABSENCE OF THE PORTAL VEIN IN OCULOAURICULOVERTEBRAL DYSPLASIA
(GOLDENHAR SYNDROME): J.H. Seashore, et. al., Pediatr Radiol (1986, issue
16(5)). Pp.437-439.
THE USE OF MICROVASCULAR FREE FLAPS FOR SOFT TISSUE AUGMENTATION OF THE
FACE IN CHILDREN WITH HEMIFACIAL MICROSOMIA: La Rossa; Cleft Palate J
(April 1980, issue 17(2)). Pp. 138-143.