Microcephalic osteodysplastic primordial dwarfism, type 1
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Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is characterized by small head size, abnormal bone growth, and dwarfism (disproportionate short stature). The word "primordial" in MOPD1 means that the symptoms of this condition begin to manifest while the baby is still in the womb.[1]
References
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Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An atlas of genetic disorders of the skeletal development. 2nd ed. Oxford, NY: Oxford University Press; 2002.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Microcephalic osteodysplastic primordial dwarfism, type 1. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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Little People of America (LPA)
5289 NE Elam Young Parkway Suite F-100
Hillsboro OR 97124
Telephone: 888-LPA-2001 (888-572-2001); 503-846-1562
Fax: 503-846-1590
E-mail: info@lpaonline.org
Web site: www.lpaonline.org
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European Skeletal Dysplasia Network
North West Genetics Knowledge Park (Nowgen)
The Nowgen Centre 29 Grafton Street
Manchester M13 9WU
United Kingdom
Phone: 0161 276 3202
Fax: 0161 276 4058
Email: info@esdn.org
Web site: www.esdn.org
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Wendt Center for Loss and Healing
4201 Connecticut Ave NW, Suite 300
Washington, DC 20008
Telephone: 202-624-0010
Fax: 202-624-0062
E-mail: info@wendtcenter.org
Web site: http://www.wendtcenter.org/
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The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Studies of Children with Metabolic or Other Genetic Disorders which may be of interest to you. To find this trial, click on the link above.
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The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you. To find this trial, click on the link above.
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International Skeletal Dysplasia Registry
Medical Genetics Institute
8635 West Third Street, Suite 665
Los Angeles, CA 90048
Toll-free: 1-800-233-2771
Fax: 310-423-0462
Web site: http://www.csmc.edu/3805.html
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