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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • FRAXE syndrome
  • Fragile site, folic acid type
  • X-linked mental retardation associated with fragile site FRAXE
Home > Rare Diseases and Related Terms > Fragile XE syndrome



Fragile XE syndrome
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Fragile XE syndrome is a genetic condition associated with mild to borderline intellectual disabilities (IQ = 50-85) with physical features differing from person to person. The characteristic features are learning difficulties, often a consequence of communication problems (speech delay, poor writing skills), and overactivity. Fragile XE syndrome is caused by a specific type of change (mutation) called a trinucleotide repeat expansion that occurs on chromosome X. The repeating trinucleotide in Fragile XE syndrome is CCG. When the number of CCG repeats is over 200, people typically have the signs and symptoms seen in Fragile XE syndrome.[1]




References
  1. Gecz J. The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects. Ann. Hum. Genet. 2000.
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Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
For more information about Fragile XE syndrome click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 
More Detailed Information (Found 3 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

  • General

    • The National Center on Birth Defects and Developmental Disabilities (NCBDDD) at the Center for Disease Control and Prevention (CDC) provides information about developmental disabilities, including mental retardation.  To view this information, click on the link below.
      Link: http://www.cdc.gov/ncbddd/dd/ddmr.htm
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fragile XE syndrome. 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 Fragile XE syndrome. Click on the link to view a sample search on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



    • Developmental Delay Resources (DDR)
      5801 Beacon Street
      Pittsburgh, PA 15217
      Toll-free: 1-800-497-0944
      Fax: 412-422-1374
      E-mail: devdelay@mindspring.com
      Web site: http://www.devdelay.org
    • American Association on Intellectual and Developmental Disabilities
      444 North Capitol Street, NW
      Suite 846
      Washington, D.C. 20001-1512
      Telephone: (202) 387-1968 
      Toll free: (800) 424-3688
      Fax: (202) 387-2193
      Web site: http://www.aaidd.org
  • 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.
 Testing | Parent Resources
Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • 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.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • 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 5 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.
    • 2010 Genetic Alliance Annual Conference , July 15, 2010 - July 18, 2010
      Location: Bethesda North Marriott Hotel and Conference Center, Bethesda, Maryland
      Description: The Genetic Alliance Annual Conference is consistently inspirational and enables partnership among all stakeholders: advocates and community leaders, health and industry professionals, policymakers and academicians.
    • Neural Interfaces Conference 2010 , June 21, 2010 - June 22, 2010
      Location: Long Beach Convention Center, Long Beach, California
      Description: The goal of the workshop was to present state-of-the-art technological advances to both the neural prosthesis and deep brain stimulation (DBS) communities while encouraging interaction between these two groups to develop new collaborations to create therapies for human use. In addition, inclusion and showcasing of trainees was an important goal. Student poster presentations fostered scientific exchange, networking, and communication among registrants and 20 travel awards were given to qualifying undergraduate, graduate or medical students, and postdoctoral fellows. One such interaction between student and principal investigator (PI) has resulted in the student becoming a postdoctoral fellow in the PI’s laboratory.
    • 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.
    • Interdisciplinary Training Conference in Developmental Disabilities, March 15, 2010 - March 16, 2010
      Description: The goal of this meeting was to mentor the career development of a “hybrid” junior scientist working in developmental disabilities research, including those within T32 training programs as well as other training programs. The focus was on pre- and postdoctoral students (scholars-in-training) because interdisciplinary training after scientific formation appears to be less effective in nurturing biobehavioral scientists with an integrated focus.
 
Clinical Trials & Research (Found 4 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • The National Fragile X Foundation provides a state by state list of clinical trials involving fragile X-associated disorders. Click on National Fragile X Foundation to view the list.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • 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

    • 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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