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Chromosome 22q11.2 Deletion Syndrome

Important
It is possible that the main title of the report Chromosome 22q11.2 Deletion 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

  • DiGeorge syndrome
  • velocardiofacial syndrome
  • Shprintzen syndrome
  • conotruncal anomaly face syndrome
  • Caylor cardiofacial syndrome
  • autosomal dominant Opitz G/BBB syndrome

Disorder Subdivisions

  • None

General Discussion

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differences, and learning and behavioral differences. The symptoms of this condition are extremely variable, even among members of the same family.

Chromosome 22q11.2 deletion syndrome is a disorder caused by a small piece of chromosome 22 missing. A number of separately described diagnoses including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), autosomal dominant OpitzG/BBB syndrome and Cayler Cardiofacial syndrome were all originally thought to be separate disorders before the chromosome 22q11. 2 deletion was identified in individuals affected with all of these conditions.

Resources

FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Internet: http://www.faces-cranio.org

Hypoparathyroidism Association, Inc.
PO Box 2258
Idaho Falls, ID 83403
Tel: (866)213-0394
Fax: (205)524-3857
Tel: (866)213-0394
Email: hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org
Internet: http://www.hypopara.org

Velo-Cardio-Facial Syndrome Educational Foundation
P.O. Box 12591
Dallas, TX 75225
USA
Tel: (214)360-4740
Email: info@vcfsef.org
Internet: http://www.vcfsef.org

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.heart.org

NIH/National Institute of Dental and Craniofacial Research
Building 31, Room 2C39
31 Center Drive, MSC 2290
Bethesda, MD 20892
USA
Tel: (301)496-4261
Fax: (301)480-4098
Tel: (866)232-4528
Email: nidcrinfo@mail.nih.gov
Internet: http://www.nidcr.nih.gov/

National Foundation for Facial Reconstruction
333 East 30th Street, Lobby Unit
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534
Internet: http://www.nffr.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

22q and You Center
The Children's Hospital of Philadelphia
Donna M. McDonald-McGinn, MS, CGC, Program Director
34th Street and Civic Center Boulevard Room 8C05
Philadelphia, PA 19104
Tel: (215)590-2920
Fax: (215)590-3298
Tel: (800)879-2467
Email: Alice Bailey - baileya1@email.chop.edu or genetics@email.chop.edu
Internet: http://www.chop.edu/service/22q-and-you-center/home.html

Chromosome 22 Central
c/o Murney Rinholm
7108 Partinwood Drive
Fuquay-Varina, NC 27526
USA
Tel: (919)567-8167
Email: murney.rinholm@c22c.org
Internet: http://www.c22c.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
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
Internet: http://rarediseases.info.nih.gov/GARD/

International 22q11.2 Deletion Syndrome Foundation, Inc.
P.O. Box 424
Matawan, NJ 07747
Tel: (877)739-1849
Email: info@22q.org
Internet: http://www.22q.org

Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
Tel: (616)329-1335
Email: Rachelmancuso09@comcast.net
Internet: http://www.cleftsmile.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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:  4/28/2010
Copyright  1991, 1993, 1996, 1997, 1998, 2004, 2010 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: February 25, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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