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Copyright 1987, 1989, 1994, 1997, 1998, 1999, 2006, 2007
Synonyms of Oculo-Auriculo-Vertebral Spectrum
- Facio-Auriculo-Vertebral Spectrum
- FAV
- First and Second Branchial Arch Syndrome
- Goldenhar-Gorlin Syndrome
- OAVS
- OAV Spectrum
- Oculo-Auriculo-Vertebral Dysplasia
Disorder Subdivisions
- Goldenhar Syndrome
- Hemifacial Microsomia (HFM)
- Oculo-Auriculo-Vertebral Disorder
General Discussion
Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine.
Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microstomia appears to be an intermediate form.
The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaw, mouth, ears, eyes, and/or bones of the spinal column (vertebrae). Although, in most cases (about 60%), such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected than the left.
In most cases OAVS appears to occur randomly, with no apparent cause (sporadic). However, in some cases, family histories suggest autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance).
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Organizations related to Oculo-Auriculo-Vertebral Spectrum
- American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston VA 20190
Phone #: 703-790-8466
800 #: 800-222-2336
e-mail: infoaud@audiology.org
Home page: http://www.audiology.org
- American Speech-Language-Hearing Association
10801 Rockville Pike
Rockville MD 20852
Phone #: 800-498-2071
800 #: 800-638-8255
e-mail: actioncenter@asha.org
Home page: http://www.asha.org
- Atresia/Microtia Online E-mail Support Group
None
None None None
Phone #: N/A
800 #: N/A
e-mail: AtresiaMicrotia-owner@yahoogroups.com
Home page: http://www.ealth.groups.yahoo.com/group/AtresiaMicrotia
- Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: contactCCA@ccakids.com
Home page: http://www.ccakids.com
- Ear Anomalies Reconstructed: Atresia/Microtia Support Group
72 Durand Road
Maplewood NJ 07040
Phone #: 973-761-5438
800 #: --
e-mail: atresiamicrotia-subscribe@yahoogroups.com
Home page: N/A
- FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga TN 37401
Phone #: 423-266-1632
800 #: 800-332-2373
e-mail: faces@faces-cranio.org
Home page: http://www.faces-cranio.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Goldenhar Syndrome Support Network Society
PO Box 751112
Las Vegas NV 89136-1112
Phone #: N/A
800 #: 888-486-1209
e-mail: info@ameriface.org
Home page: http://www.goldenharsyndrome.org
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: 2020@nei.nih.gov
Home page: http://www.nei.nih.gov/
- NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: N/A
- National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown MA 02471
Phone #: 617-972-7441
800 #: 800-562-6265
e-mail: napvi@perkins.org
Home page: http://www.napvi.org
- National Kidney Foundation
30 East 33rd Street
New York NY 10016
Phone #: 212-889-2210
800 #: 800-622-9010
e-mail: info@kidney.org
Home page: http://www.kidney.org
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