OSMED, Homozygous

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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: 9199339044

Fax: 9199339604

Tel: 8002425338

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: 7036843391

Fax: 7036846048

Tel: 8003279355

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: 2172240698

Fax: 2172242867

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

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

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Copyright   2006 National Organization for Rare Disorders, Inc.

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