DiGeorge Syndrome

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)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Immune Deficiency Foundation
40 West Chesapeake Avenue
Suite 308
Towson, MD 21230
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 (Balance)
National Temporal Bone, Hearing
and Balance Pathology Resource Registry
Massachusetts Eye & Ear Infirmary
243 Charles Street
Boston, MA 02114-3096
Fax: (617)573-3838
Tel: (800)822-1327
TDD: (888)561-3277
Email: TBRegistry@meei.harvard.edu
Internet: http://www.tbregistry.org

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: info@ipopi.org
Internet: http://www.ipopi.org/

Chromosome 22 Central
237 Kent Ave
Timmins
Ontario, Intl P4N 3C2
Canada
Tel: 7052683099
Email: a815@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
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nih.gov/hichd/

European Society for Immunodeficiencies (ESID)
c/o Dr. Esther de Vries
Jeroen Bosch Hospital
Dept. Paediatrics
P.O. Box 90153
Hertogenbosch, 5200 ME's
Netherlands
Tel: +31 73-6992965
Fax: +31 73-6992948
Email: info@esid.org
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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