OSMED, Homozygous

National Organization for Rare Disorders, Inc.

Skip to the navigation

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.


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

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.

Supporting Organizations

American Academy of Audiology

11730 Plaza America Drive, Suite 300
Reston, VA 20190
Tel: (703)790-8466
Fax: (703)790-8631
Tel: (800)222-2336
Email: infoaud@audiology.org
Website: http://www.audiology.org

American Cleft Palate-Craniofacial Association

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

Better Hearing Institute

1444 I Street NW
Suite 700
Washington, DC 20005
United States
Tel: (202)449-1100
Fax: (703)684-6048
Tel: (800)327-9355
Email: mail@betterhearing.org
Website: http://www.betterhearing.org

Cleft Lip and Palate Association

Green Man Tower First Floor
332B Goswell Road
London, EC1V 7LQ
United Kingdom
Tel: 2078334883
Fax: 2078335999
Email: info@clapa.com
Website: http://www.clapa.com

European Skeletal Dysplasia Network

Institute of Genetic Medicine
Newcastle University
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 441612755642
Fax: 441612755082
Email: info@esdn.org
Website: http://www.esdn.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hearing Loss Association of America

7910 Woodmont Avenue
Suite 1200
Bethesda, MD 20814
Tel: (301)657-2248
Fax: (301)913-9413
Email: info@hearingloss.org
Website: http://www.hearingloss.org

Human Growth Foundation

997 Glen Cove Avenue
Suite 5
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Website: http://www.hgfound.org/

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Website: http://www.marchofdimes.com

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

NIH/National Institute on Deafness and Other Communication Disorders

31 Center Drive, MSC 2320
Communication Avenue
Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
Email: nidcdinfo@nidcd.nih.gov
Website: http://www.nidcd.nih.gov

Pierre Robin Network

3604 Biscayne
Quincy, IL 62305
Tel: (217)224-0698
Fax: (217)224-2867
Email: info@pierrerobin.org
Website: http://www.pierrerobin.org

Stickler Involved People

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

Stickler Syndrome Support Group

PO Box 3351
Littlehampton, BN16 9GB
United Kingdom
Tel: 1903785771
Email: info@stickler.org.uk
Website: http://www.stickler.org.uk

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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:  1/8/1970
Copyright  2006 National Organization for Rare Disorders, Inc.