DiGeorge Syndrome

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DiGeorge Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report DiGeorge Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Congenital Absence of the Thymus and Parathyroids
  • DGS
  • Harrington Syndrome
  • Pharyngeal Pouch Syndrome
  • Third and Fourth Pharyngeal Pouch Syndrome
  • Thymic Agenesis
  • Thymic Aplasia, DiGeorge Type
  • Velocardiofacial Syndrome
  • CATCH22
  • Chromosome 22q11 Deletion Syndrome

Disorder Subdivisions

  • None

General Discussion

DiGeorge syndrome (DGS) is a complex disorder associated with a wide variety of symptoms that is present at birth and occurs as a result of the deletion of a portion of chromosome 22 during early fetal development. Transmission from parent to child (congenital) accounts for only about 5 percent of cases. The remaining 95 percent are the result of spontaneous mutations (sporadic). These defects occur in areas known as the 3rd and 4th pharyngeal pouches, that later develop into the thymus and parathyroid glands. Cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia characterize DiGeorge syndrome. The first letters of each of these descriptions form the acronym, CATCH. Since the disorder is caused by the deletion of a small piece of chromosome 22, the medical community sometimes refers to DGS as CATCH-22. Facial features of DGS include wide-set eyes, low-set ears, a small jaw and a narrow, short groove in the upper lip.

The thymus gland is located below the thyroid gland in the neck and behind the breast bone (sternum) of the chest and is the primary gland of the lymphatic system. It is essential for the normal functioning of the immune system. A diminished immune system leads to repeated infections. The parathyroid glands, located on the sides of the thyroid gland, are responsible for the maintenance of adequate levels of calcium in the blood. Cardiac problems primarily involve the vessels that carry the blood from the heart to several parts of the body. The variety and intensity of these signs and symptoms depends on the amount of genetic material lost or deleted from chromosome 22 in the course of replicating itself.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Arc
500 East Border Street
Suite 300
Arlington, TX 76010
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

Immune Deficiency Foundation
25 W. Chesapeake Avenue
Suite 206
Towson, MD 21204
Tel: (410)321-6647
Fax: (410)321-9165
Tel: (800)296-4433
Email: idf@primaryimmune.org
Internet: http://www.primaryimmune.org

NIH/National Institute on Deafness and Other Communication Disorders
31 Center Drive, MSC 2320
Communication Avenue. Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
TDD: (800)241-1105
Email: nidcdinfo@nidcd.nih.gov
Internet: http://www.nidcd.nih.gov

International Patient Organization for Primary Immunodeficiencies
Firside
Main Road
Downderry
Cornwall, PL11 3LE
United Kingdom
Tel: 44 1503 250 668
Fax: 44 1503 250 668
Email: david@ipopi.org
Internet: http://www.ipopi.org/

Chromosome 22 Central
338 Spruce Street North
Timmins
Ontario, Intl P4N 6N5
Canada
Tel: 705-268-3099
Email: steph.stpierre@c22c.org
Internet: http://www.c22c.org

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943
TDD: (888)320-6942
Email: NICHDInformationResourceCenter@mail.nih.gov
Internet: http://www.nichd.nih.gov/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Internet: http://rarediseases.info.nih.gov/GARD

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

European Society for Immunodeficiencies
1-3 rue de Chantepoulet
Geneva 1
Switzerland
., CH 1211
.
Tel: +31 73-6992965
Fax: +41 22 906 91 40
Email: esid@kenes.com
Internet: http://www.esid.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/23/2007
Copyright  1986, 1988, 1992, 1993, 1996, 1997, 1998, 1999, 2000, 2006, 2007 National Organization for Rare Disorders, Inc.

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