Congenital contractural arachnodactyly
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Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern.[1][2] CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene.
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Congenital contractural arachnodactyly
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General | Management Guidelines | Selected Full-Text Journal Articles
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More Detailed Information (Found 7 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer
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General
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Genetics Home Reference (GHR) contains information on Congenital contractural arachnodactyly. Click on the link to go to GHR and review the information.
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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.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Congenital contractural arachnodactyly. 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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PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital contractural arachnodactyly. Click on the link to view a sample search on this topic.
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Management Guidelines
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
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Selected Full-Text Journal Articles
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Tuncbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis. 2006; 1:20.
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Organizations Providing General Support | Social Networking Websites
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Organizations (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer
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Scoliosis Research Society
555 East Wells Street, Suite 1100 Milwaukee, WI 53202-3823 USA Phone: 1-414-289-9107 Fax: 1-414-276-3349 Email: info@srs.org Web site: www.srs.org
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Canadian Marfan Association
Centre Plaza Postal Outlet 128 Queen Street South P.O. Box 42257 Mississauga Ontario L5M 4Z0 Canada Toll-free: 1-866-722-1722 Telephone: 905-826-3223 Fax: 905-826-2125 E-mail: info@marfan.ca Web site: www.marfan.ca
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National Marfan Foundation
22 Manhasset Avenue Port Washington, NY 11050 Toll-free: 800-8-MARFAN (800-862-7326) Telephone: 516-883-8712 Fax: 516-883-8040 E-mail: staff@marfan.org Web site: http://www.marfan.org
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Organizations Providing General Support
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Genetic Alliance
4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org
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National Organization for Rare Disorders (NORD)
55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/
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Social Networking Websites
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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.
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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/
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
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Testing | Parent Resources
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Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer
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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.
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Testing
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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.
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The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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Parent Resources
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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.
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Scientific Conferences (Found 3 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer
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Past Conferences
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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.
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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.
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25th Annual National Marfan Foundation Conference, August 6, 2009 - August 9, 2009
Location: Mayo Clinic, Rochester, MN Description: Goals of this meeting were to (1) improve public awareness of Marfan syndrome; (2) improve patients’ knowledge of their condition and therapeutic options available to them (medical, social, and psychological); and (3) bring patients together with specialists from multiple disciplines including medical genetics, cardiology, cardiac surgery, orthopedics, and ophthalmology.
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Clinical Trials & Research (Found 5 resources)
Resources where you may find research studies and clinical trials. Disclaimer
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ClinicalTrials.gov lists trials that are studying or have studied Congenital contractural arachnodactyly. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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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.
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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.
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Patient Registry
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The Genetic Analysis of Limb Malformation Disorders is a research project and patient registry that aims to better understand the cause of congenital contractures. Click on the link above to learn more.
Genetic Analysis of Limb Malformation Disorders Bamshad Laboratory University of Washington SOM Department of Pediatrics Division of Genetics & Developmental Medicine 1959 NE Pacific St. HSB RR349 B Seattle, WA 98195-6320 USA Maggie McMillin, Research Study Coordinator E-mail: margaret.mcmillin@seattlechildrens.org E-mail 2: mcmillin@u.washington.edu Phone: 206-221-3849
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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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