$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.