OSMED, Homozygous

Important
It is possible that the main title of the report OSMED, Homozygous is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

oto-spondylo-megaepiphyseal dysplasia, autosomal recessive
oto-spondylo-megaepiphyseal dysplasia, homozygous
Nance-Sweeney syndrome

Disorder Subdivisions

None

General Discussion

Homozygous OSMED (oto-spondylo-megaepiphyseal dysplasia) is an extremely rare genetic disorder characterized by malformation (dysplasia) of certain bones, hearing loss and distinct facial features. Skeletal malformations affect the bones of the arms, legs and spines eventually resulting in disproportionate short stature. Hearing loss is often severe. Intelligence is normal. Homozygous OSMED occurs because of disruptions or changes (mutations) to the COL11A2 gene and is inherited as an autosomal recessive trait.

Two additional disorders, Weissenbacher-Zweymuller syndrome and Stickler syndrome III, more commonly known as non-ocular Stickler syndrome, are also caused by mutations to this gene (allelic disorders). Some clinical researchers believe that each of these three disorders is a separate and distinct entity. Others believe that the three represent a range of severity of one syndrome. Regardless, these disorders involve alterations (mutations) of the collagen gene, COL11A2. Some researchers have suggested that the name OSMED be used as a general heading to consist of "heterozygous OSMED," which encompasses Weissenbacher-Zweymuller syndrome and Stickler syndrome type III and is inherited as an autosomal dominant trait, and "homozygous OSMED," which encompasses autosomal recessive cases of oto-spondylo-megaepiphyseal dysplasia.

Resources

Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Internet: http://www.hgfound.org/

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

Cleft Palate Foundation
1504 East Franklin Street
Suite 102
Chapel Hill, NC 27514-2820
USA
Tel: (919)933-9044
Fax: (919)933-9604
Tel: (800)242-5338
Email: info@cleftline.org
Internet: http://www.cleftline.org

Better Hearing Institute
515 King Street, Suite 420
Suite 420
Alexandria, VA 22314
United States
Tel: (703)684-3391
Fax: (703)684-6048
Tel: (800)327-9355
Email: mail@betterhearing.org
Internet: http://www.betterhearing.org

Stickler Syndrome Support Group
PO Box 371
Walton-on-the-Thames
Surrey, Intl KT12 2YS
United Kingdom
Tel: 44 1932 267635
Fax: 44 1932 267635
Email: wendy@stickler.org.uk
Internet: http://www.stickler.org.uk

Stickler Involved People
15 Angelina
Augusta, KS 67010
Tel: (316)775-2993
Email: sip@sticklers.org
Internet: http://www.sticklers.org

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
1 AMS Circle
Bethesda, MD 20892-3675
Tel: (301)496-8188
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NAMSIC@mail.nih.gov
Internet: http://www.nih.gov/niams/

NIH/National Institute on Deafness and Other Communication Disorders (Balance)
National Temporal Bone, Hearing
and Balance Pathology Resource Registry
Massachusetts Eye & Ear Infirmary
243 Charles Street
Boston, MA 02114-3096
Fax: (617)573-3838
Tel: (800)822-1327
TDD: (888)561-3277
Email: TBRegistry@meei.harvard.edu
Internet: http://www.tbregistry.org

Cleft Lip and Palate Association (CLAPA)
332 Goswell Road
First Floor
Green Man Tower
London, EC1V 7LQ
United Kingdom
Tel: 020 7833 4883
Fax: 020 7833 5999
Email: info@clapa.com
Internet: http://www.clapa.com

Pierre Robin Network
3604 Biscayne
Quincy, IL 62305
USA
Tel: (217)224-0698
Fax: (217)224-2867
Email: help@pierrerobin.org
Internet: http://www.pierrerobin.org

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

European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester, M13 9PT
UK
Tel: 44 161 275 5642
Fax: 44 161 275 5082
Email: info@esdn.org
Internet: http://www.esdn.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: 4/28/2008
Copyright 2006 National Organization for Rare Disorders, Inc.

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