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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Escobar syndrome
  • Multiple pterygium syndrome nonlethal type
  • Pterygium syndrome
  • Multiple pterygium syndrome
  • Pterygium colli syndrome
  • Pterygium universale
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Home > Genetic & Rare Diseases Information Center (GARD) > Multiple pterygium syndrome Escobar type



Multiple pterygium syndrome Escobar type
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Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures.[1] Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion.


References
  1. Multiple pterygium syndrome, Escobar variant. Online Mendelian Inheritance in Man. 2008 Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265000. Accessed August 13, 2009.
  2. Enns GM. NORD Guide to Rare Disorders: 'Multiple Pterygium Syndrome'. Philadelphia, PA: Lippincott Williams & Wilkins; 2003.
  3. Morgan NV et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. American Journal of Human Genetics. 2006.
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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 Multiple pterygium syndrome Escobar type click on the boxes below:
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More Detailed Information (Found 6 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

  • General

    • Genetics Home Reference (GHR) contains information on Multiple pterygium syndrome Escobar type. 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 Multiple pterygium syndrome Escobar type. Click on the link to go to OMIM and review these resources.
    • Online Mendelian Inheritance in Man (OMIM) contains a gene summary on CHRNG. Mutations in this gene can cause multiple pterygium syndrome, Escobar type. Click on the link above to go to OMIM and review this summary.
    • 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 Multiple pterygium syndrome Escobar type. Click on the link to view a sample search on this topic.
 Umbrella Organizations | Social Networking Websites
Organizations (Found 6 resources)
Groups providing a wide range of services, supportive resources, and information.

  • Umbrella Organizations

  • 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/  
    • 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.
 Testing | Parent Resources
Services (Found 5 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

    • 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.
    • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
  • 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.
 Upcoming Conferences | Past Conferences
Scientific Conferences (Found 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

  • Upcoming 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; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
  • Past Conferences

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

    • 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.
    • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
  • 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 Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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