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It is possible that the main title of the report OSMED, Heterozygous 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.
Heterozygous OSMED (oto-spondyl-megaepiphyseal dysplasia) is a rare genetic disorder characterized by skeletal malformations resulting in shortening of the upper limbs and thighs and short stature (rhizomelic dwarfism). Additional symptoms include distinctive facial features and delays in psychomotor development. After the initial period of growth deficiency, affected individuals experience gradual improvement in bone growth that leads to normal physical development by early childhood. Mental and motor development is also normal by early childhood. In some cases, affected individuals develop hearing loss. Heterozygous OSMED occurs because of disruptions or changes (mutations) to the COL11A2 gene.
A group of collagen disorders (i.e., OSMED, Weissenbacher-Zweymuller syndrome and non-ocular Stickler syndrome or Stickler syndrome type III) are all caused by mutations to the COL11A2 gene (allelic disorders). Some researchers consider these three disorders separate entities; others believe that they are the same disorder or different expresses of one disorder. Recently, 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.
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
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".
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.
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Last Updated: 4/25/2008
Copyright 2006 National Organization for Rare Disorders, Inc.
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