Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Oculo-Auriculo-Vertebral Spectrum


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).

Organizations related to Oculo-Auriculo-Vertebral Spectrum
  • American Academy of Audiology
    11730 Plaza America
    Reston VA 20190
    Phone #: 703-790-8466
    800 #: 800-222-2336
    e-mail: info@audiology.org
    Home page: http://www.audiology.org
  • American Speech-Language-Hearing Association
    10801 Rockville Pike
    Rockville MD 20852
    Phone #: 800-321-2742
    800 #: 800-321-2742
    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://health.groups.yahoo.com/group/AtresiaMicrotia
  • Children's Craniofacial Association
    13140 Coit Road
    Dallas TX 75240
    Phone #: 214-570-9099
    800 #: 800-535-3643
    e-mail: csmith@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
  • Goldenhar Syndrome Support Network Society
    9325 163 Street
    Alberta Intl T5R 2P4
    Phone #: (78-0)8-42-3420
    800 #: N/A
    e-mail: support@goldenharsyndrome.org
    Home page: http://www.goldenharsyndrome.org
  • MUMS (Mothers United for Moral Support, Inc) 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 #: 914-428-7100
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • NIH/National Eye Institute
    Building 31 Rm 6A32
    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 02472
    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



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html