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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • CED2
  • Progressive diaphyseal dysplasia with striations of the bones
Home > Rare Diseases and Related Terms > Camurati Engelmann disease, type 2



Camurati Engelmann disease, type 2
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Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence.[1]

Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion.[1][2] In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition.[1] In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II.[2]


References
  1. Camurati-Engelmann disease. Genetic Home Reference. April 2008 Available at: http://ghr.nlm.nih.gov/condition=camuratiengelmanndisease. Accessed April 17, 2008.
  2. Camurati engelmann disease. Orphanet. February 2005 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1328. Accessed April 17, 2008.
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More Detailed Information (Found 3 resources)
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  • General

    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Camurati Engelmann disease, type 2. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Camurati Engelmann disease, type 2. Click on the link to view a sample search on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 6 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



    • European Skeletal Dysplasia Network
      Wellcome Trust Centre for Cell-Matrix Research
      Faculty of Life Sciences
      University of Manchester
      Michael Smith Building
      Oxford Road 
      Manchester M13 9PT
      United Kingdom
      Telephone: 0161 276 3202
      Fax: 0161 276 4058
      E-mail: info@esdn.org
      Web site: http://www.esdn.org/eug/Home  
  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 Ask-an-Expert | Parent Resources
Services (Found 4 resources)
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    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Ask-an-Expert

  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
Clinical Trials & Research (Found 6 resources)
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    • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
    • 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.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • Greenberg Center for Skeletal Dysplasias
      Johns Hopkins University
      Institute of Genetic Medicine
      600 North Wolfe Street
      Blalock 1008
      Baltimore, MD 21287
      Telephone: 410-614-0977
      E-mail:  deedee@jhmi.edu
      Web site:  http://www.hopkinsmedicine.org/geneticmedicine/CR/SKD/index.html
    • International Skeletal Dysplasia Registry
      Medical Genetics Institute
      Pacific Theatres, 4th Floor
      8700 Beverly Blvd.
      Los Angeles, CA 90048
      Telephone: 310-423-9915
      Fax: 310-423-1528
      E-mail: http://isdr.csmc.edu/contact-us/ 
      Web site: http://isdr.csmc.edu/
    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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