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"Resources" on this report.
Copyright 1986, 1988, 1992, 1993, 1996, 1997, 1998, 1999, 2000, 2006, 2007
Synonyms of DiGeorge Syndrome
- CATCH22
- Chromosome 22q11 Deletion Syndrome
- 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
Disorder Subdivisions
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.
Organizations related to DiGeorge Syndrome
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Chromosome 22 Central
237 Kent Ave
Timmins
Ontario Intl P4N 3C2
Phone #: 705--26-8-3099
800 #: --
e-mail: steph.stpierre@c22c.org
Home page: http://www.c22c.org
- European Society for Immunodeficiencies (ESID)
c/o Dr. Bodo Grimbacher (ESID Board Member)
Division of Rheumatology and Clinical Immunology
Department of Medicine, University Hospital Freiburg
Hugstetter Strasse 55
Freiburg None D-79106
Phone #: +31- 73--6992965
800 #: N/A
e-mail: info@esid.org
Home page: http://www.esid.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Immune Deficiency Foundation
40 West Chesapeake Avenue
Suite 308
Towson MD 21204
Phone #: 410-321-6647
800 #: 800-296-4433
e-mail: idf@primaryimmune.org
Home page: http://www.primaryimmune.org
- International Patient Organization for Primary Immunodeficiencies
Firside
Main Road
Downderry
Cornwall None PL11 3LE
Phone #: 44 -150-3 250 668
800 #: --
e-mail: david@ipopi.org
Home page: http://www.ipopi.org/
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
- NIH/National Institute on Deafness and Other Communication Disorders (Balance)
National Temporal Bone, Hearing
and Balance Pathology Resource Registry
Massachusetts Eye & Ear Infirmary
243 Charles Street
Boston MA 02114-3096
Phone #: --
800 #: 800-822-1327
e-mail: TBRegistry@meei.harvard.edu
Home page: http://www.tbregistry.org
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