OSMED, Homozygous

National Organization for Rare Disorders, Inc.

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)997-4488
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

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)
First Floor
Green Man Tower
332B Goswell Road
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

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
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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
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

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
Internet: http://www.hearingloss.org

For a Complete Report

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

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