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Noonan syndrome 1
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Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body.[1] Characteristics of the syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay.[2][3] Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes.[4] It is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. It is typically inherited in an autosomal dominant manner, although in many individuals with Noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition.[2][3]


References
  1. Haldeman-Englert C. Noonan syndrome. MedlinePlus. 2009 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm. Accessed March 2, 2010.
  2. Noonan syndrome. Genetics Home Reference (GHR). 2007 Available at: http://ghr.nlm.nih.gov/condition=noonansyndrome. Accessed March 2, 2010.
  3. Learning About Noonan Syndrome. National Human Genome Research Institute (NHGRI). 2009 Available at: http://www.genome.gov/25521674. Accessed March 2, 2010.
  4. Noonan syndrome. Genetics Home Reference. March 2011 Available at: http://ghr.nlm.nih.gov/condition/noonan-syndrome. Accessed July 16, 2011.
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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 Noonan syndrome 1 click on the boxes below:
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 General | Management Guidelines
More Detailed Information (Found 9 resources)
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  • General

    • Genetics Home Reference (GHR) contains information on Noonan syndrome 1. Click on the link to go to GHR and review the information.
    • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • 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 Noonan syndrome 1. 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 Noonan syndrome 1. 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.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 9 resources)
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Medical Products (Found 1 resource)
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 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

    • 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.
    • GeneTests lists laboratories offering clinical genetic testing for the KRAS-related, NRAS-related, PTPN11-related, RAF1-related, and SOS1-related types of 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 4 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.
    • International Meeting on Genetic Syndromes of the Ras/MAPK Pathway, July 29, 2011 - July 31, 2011
      Location: The Westin O’Hare, Chicago, IL
      Description: The ultimate goals of this meeting are to develop better medical management and establish novel therapies. The overall goal is to provide a forum for researchers, clinicians, physician-scientists, trainees, and affected persons/families to share and discuss basic science and clinical issues in order to set forth a solid framework for future research, translational applications directed toward therapy, and best practices for individuals with Ras/MAPK pathway syndromes.
    • 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.
    • Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back, August 1, 2009 - August 2, 2009
      Location: DoubleTree Hotel and Executive Meeting Center at the Berkeley Marina, Berkeley, CA
      Description: The overall goal of this symposium was to provide an open forum for researchers, clinicians and physician–scientists, trainees, and families to share and discuss basic science and clinical issues to set forth a solid framework for future research, translational applications directed toward therapy, and best practices for individuals with these syndromes. Formalization of basic science and clinical research through this symposium would also provide insight into the cause and progression of cancer as well as the understanding of how this critical signal transduction pathway is involved in the regulation of normal human development.
 
Clinical Trials & Research (Found 3 resources)
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    • ClinicalTrials.gov lists trials that are studying or have studied Noonan syndrome 1. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • 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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