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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Beals syndrome
  • Arachnodactyly, contractural Beals type
  • Contractures, multiple with arachnodactyly
  • Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
  • Beals-Hecht syndrome
  • CCA
Home > Rare Diseases and Related Terms > Congenital contractural arachnodactyly



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.


References
  1. Godfrey M. Congenital Contractural Arachnodactyly. GeneReviews. May 4, 2007 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cca#cca. Accessed November 20, 2009.
  2. Congenital contractural arachnodactyly. Genetics Home Reference. February 2008 Available at: http://ghr.nlm.nih.gov/condition=congenitalcontracturalarachnodactyly. Accessed November 20, 2009.
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Questions & Answers (Found 2 Questions)
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 Congenital contractural arachnodactyly click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 General | Management Guidelines | Selected Full-Text Journal Articles
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

  • General

    • Genetics Home Reference (GHR) contains information on Congenital contractural arachnodactyly. Click on the link to go to GHR and review the information.
    • 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 Congenital contractural arachnodactyly. Click on the link to go to OMIM and review these resources.
    • 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.
    • 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.
  • Management Guidelines

    • 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.
  • Selected Full-Text Journal Articles

 Organizations Providing General Support | Social Networking Websites
Organizations (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



    • 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
    • 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
    • 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
  • 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 4 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.
    • 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.
  • 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 3 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.
    • 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.
 
Clinical Trials & Research (Found 5 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • 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.
    • 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

    • 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
    • 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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