Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • ACH
  • Achondroplastic dwarfism
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Home > Genetic & Rare Diseases Information Center (GARD) > Achondroplasia



Achondroplasia
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Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by short stature, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. Achondroplasia is caused by changes (mutations) in the FGFR3 gene.[1]

References
  1. Achondroplasia. Genetic Home Reference. 2006 Available at: http://ghr.nlm.nih.gov/condition=achondroplasia. Accessed August 13, 2009.
  2. Francomano CA. Achondroplasia. GeneReviews. 2006 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=achondroplasia. Accessed August 13, 2009.
  3. Totter TL, Hall JG, Committee on Genetics. . Pediatrics. 2005;:. Available at: http://pediatrics.aappublications.org/cgi/reprint/116/3/771. August 13, 2009.

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.
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For more information about Achondroplasia click on the boxes below:
More Detailed Information NLM Gateway Services Scientific Conferences Support Groups Clinical Trials & Research
 General | Management Guidelines | Selected Full-Text Journal Articles
More Detailed Information (Found 12 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • eMedicine 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
    • Genetics Home Reference (GHR) contains a condition summary on Achondroplasia. Click on the link to go to GHR and review this summary.
    • John's Hopkins Medicine has an information page on this topic. Click on the link above to view the information page.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • 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 Achondroplasia. 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 Achondroplasia. 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.
    • The National Guideline Clearinghouse (NGC) is a public resource for evidence-based clinical practice guidelines. The NGC was originally created by the Agency for Healthcare Research and Quality (AHRQ) in partnership with the American Medical Association and the American Association of Health Plans.
  • Selected Full-Text Journal Articles

 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 Testing | Genetic Services
Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • 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.
  • Genetic Services

    • We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:

       * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you. 

        * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
 
Scientific Conferences (Found 1 resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health

  • Past Conferences

    • International Skeletal Dysplasia Society Conference: Sixth International Conference, August 31, 2003 - August 24, 2003
      Location: Airlie House Conference Center, Warrenton, VA
      Description: The International Skeletal Dysplasia Society (ISDS) is an international organization of medical geneticists, orthopedists, radiologists, and other professionals dedicated to research and patient care for the skeletal dysplasias. The organization has a membership of more than 150 professionals who meet every 2 years to present ongoing basic and clinical research and explore collaborative opportunities. This conference highlighted the areas most in need of attention and stimulated interest in and action toward addressing those needs. Participants included the members of the ISDS and their trainees as well as others who are working in the broad fields of skeletal biology, signal transduction, and metabolic bone disease.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

    • The MAGIC Foundation
      6645 West North Avenue
      Oak Park IL 60302
      Telephone: 800-362-4423; 708-383-0808
      Fax: 708-383-0899
      E-mail: info@magicfoundation.org
      Web site: www.magicfoundation.org
    • Little People of America (LPA)
      5289 NE Elam Young Parkway Suite F-100
      Hillsboro OR 97124 
      Telephone: 888-LPA-2001 (888-572-2001); 503-846-1562
      Fax: 503-846-1590
      E-mail: info@lpaonline.org
      Web site: www.lpaonline.org
    • European Skeletal Dysplasia Network
      North West Genetics Knowledge Park (Nowgen)
      The Nowgen Centre 29 Grafton Street
      Manchester M13 9WU
      United Kingdom
      Phone: 0161 276 3202
      Fax: 0161 276 4058
      Email: info@esdn.org
      Web site: www.esdn.org  
  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 4 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Achondroplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • 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. To find this trial, click on the link above.
  • Patient Registry


Department of Health & Human Services National Institutes of Health USA.gov - government made easy


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