Oculo-Auriculo-Vertebral Spectrum

Important
It is possible that the main title of the report Oculo-Auriculo-Vertebral Spectrumis not the name you expected.

Synonyms

FAV
Goldenhar-Gorlin Syndrome
First and Second Branchial Arch Syndrome
OAV Spectrum
Oculo-Auriculo-Vertebral Dysplasia
Facio-Auriculo-Vertebral Spectrum
OAVS

Disorder Subdivisions

Oculo-Auriculo-Vertebral Disorder
Hemifacial Microsomia (HFM)
Goldenhar Syndrome

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).

Resources

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas
TX
75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
800: (800)535-3643
csmith@ccakids.com
http://www.ccakids.com

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga
TN
37401
Tel: (423)266-1632
Fax: (423)267-3124
800: (800)332-2373
faces@faces-cranio.org
http://www.faces-cranio.org

National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown
MA
02472
Tel: (617)972-7441
Fax: (617)972-7444
800: (800)562-6265
napvi@perkins.org
http://www.napvi.org

National Kidney Foundation
30 East 33rd Street
New York
NY
10016
Tel: (212)889-2210
Fax: (212)689-9261
800: (800)622-9010
info@kidney.org
http://www.kidney.org

American Speech-Language-Hearing Association
10801 Rockville Pike
Rockville
MD
20852
United States
Tel: (800)321-2742
Fax: (301)571-0457
800: (800)321-2742
TDD: (301)897-5700
actioncenter@asha.org
http://www.asha.org

Ear Anomalies Reconstructed: Atresia/Microtia Support Group
72 Durand Road
Maplewood
NJ
07040
USA
Tel: (973)761-5438
Fax: (973)378-8930
atresiamicrotia-subscribe@yahoogroups.comNIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda
MD
20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
2020@nei.nih.gov
http://www.nei.nih.gov/

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda
MD
20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
nhlbiinfo@rover.nhlbi.nih.govGoldenhar Syndrome Support Network Society
9325 163 Street
Alberta
Intl
T5R 2P4
Canada
Tel: (780)842-3420
support@goldenharsyndrome.org
http://www.goldenharsyndrome.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Atresia/Microtia Online E-mail Support Group
AtresiaMicrotia-owner@yahoogroups.com
http://health.groups.yahoo.com/group/AtresiaMicrotia

American Academy of Audiology
11730 Plaza America
#300
Reston
VA
20190
Tel: (703)790-8466
Fax: (703)790-8631
800: (800)222-2336
info@audiology.org
http://www.audiology.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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. 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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 9/23/2007
Copyright 1987, 1989, 1994, 1997, 1998, 1999, 2006, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: September 23, 2007

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.