Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Hypoplasia of thymus and parathyroids
  • Third and fourth pharyngeal pouch syndrome
  • DGS
  • Hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart
  • DiGeorge anomaly
  • DiGeorge sequence
  • Familial third and fourth pharyngeal pouch syndrome
  • Pharyngeal pouch syndrome
  • Thymic aplasia syndrome
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Home > Genetic & Rare Diseases Information Center (GARD) > DiGeorge syndrome



DiGeorge syndrome
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DiGeorge syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. The features of this syndrome vary widely. Symptoms may include heart defects, cleft palate, recurrent infections, kidney abnormalities, low levels of calcium in the blood, thrombocytopenia, feeding difficulty, hearing loss, developmental delays, and learning disabilities. People with DiGeorge syndrome are also more likely to develop certain autoimmune disorders (e.g., rheumatoid arthritis, Graves' disease) and personality disorders (e.g., schizophrenia, depression, anxiety, and bipolar disorder).[1]

References
  1. 22q11.2 deletion syndrome. Genetic Home Reference. Available at: http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome. Accessed March 27, 2008.

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 DiGeorge syndrome click on the boxes below:
More Detailed Information NLM Gateway Scientific Conferences Support Groups Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 10 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
    • The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic. 
    • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
    • Genetics Home Reference (GHR) contains a condition summary on DiGeorge syndrome. Click on the link to go to GHR and review this summary.
    • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information 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 National Center for Biotechnology Information (NCBI) is a national resource for molecular biology information. NCBI has an information page on DiGeorge syndrome. Click on the link above to view the information page.   
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss DiGeorge syndrome. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss DiGeorge syndrome. 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.
 
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.
 
Scientific Conferences (Found 2 resources)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health

  • Past Conferences

    • Primary Immunodeficiency Disease Consortium Conference, June 11, 2009
      Description: The CIS Primary Immune Deficiency Consortium Conference provided new investigators in this field the continued opportunity to enhance career development by learning from leaders in the field of primary immunodeficiency and other young investigators from institutions across the Americas and Europe.
    • Improving Cellular Therapy for Primary Immune Deficiency Diseases: Recognition, Diagnosis and Management, May 21, 2009 - May 22, 2009
      Location: EPN, 6130 Executive Blvd., Rockville, MD
      Description: The first objective of this conference was to facilitate continued discussion and team building of pediatric hematopoietic cell transplant physicians and pediatric immunologists to work together to develop a North American consortium for treatment of children with PID. The workshop of May 2008 set in motion an important collaborative effort. This new workshop focused on challenging aspects of SCID/CID not previously addressed. Other objectives were to (2) conduct a survey of current practices in the workup and management of children with SCID/CID in preparation for HCT, (3) identify questions for future clinical research by utilizing the results of the survey, and (4) develop best current practice parameters (or guidelines) in this area. The document will be published in a respected peer-reviewed journal.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 12 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

  • 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

    • 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/  
    • MUMS National Parent to Parent Network puts parents in touch with other parents who have children with this condition or similar symptoms.

      MUMS National Parent to Parent Network
      150 Custer Court
      Green Bay, Wisconsin 54301-1243
      Toll-free: 877-336-5333 (Parents only please)
      Telephone: 920-336-5333
      Fax: 1-920-339-0995
      E-mail: mums@netnet.net  
      Web site: http://www.netnet.net/mums/
 
Clinical Trials & Research (Found 1 resource)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied DiGeorge syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

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