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.
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.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Cleft Palate Foundation
1504 East Franklin Street
Chapel Hill, NC 27514-2820
Better Hearing Institute
1444 I Street NW
Washington, DC 20005
Stickler Syndrome Support Group
PO Box 3351
Littlehampton, BN16 9GB
Stickler Involved People
Augusta, KS 67010
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Institute on Deafness and Other Communication Disorders
31 Center Drive, MSC 2320
Bethesda, MD 20892-3456
Cleft Lip and Palate Association
Green Man Tower First Floor
332B Goswell Road
London, EC1V 7LQ
Pierre Robin Network
Quincy, IL 62305
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston, VA 20190
European Skeletal Dysplasia Network
Institute of Genetic Medicine
International Centre for Life
Newcastle upon Tyne, NE1 3BZ
Hearing Loss Association of America
7910 Woodmont Avenue
Bethesda, MD 20814
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".
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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
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Last Updated: 4/28/2008
Copyright 2006 National Organization for Rare Disorders, Inc.
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