Chromosome 22q11.2 Deletion Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Chromosome 22q11.2 Deletion Syndrome is not the name you expected.

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.

Supporting Organizations

"22q and You" Center

The Children's Hospital of Philadelphia
34th St and Civic Center Blvd
Philadelphia, PA 19104
Tel: (215)590-2920
Fax: (215)590-3298
Tel: (800)879-2467
Email: baileya1@email.chop.edu or genetics@email.chop.edu
Website: http://www.chop.edu/service/22q-and-you-center/home.html

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
Website: http://www.heart.org

Chromosome 22 Central

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

Cleft Lip and Palate Foundation of Smiles

2044 Michael Ave SW
Wyoming, MI 49509
Tel: (616)329-1335
Email: Rachelmancuso09@comcast.net
Website: http://www.cleftsmile.org

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
Website: http://www.faces-cranio.org

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
Website: http://rarediseases.info.nih.gov/GARD/

Hypoparathyroidism Association, Inc.

PO Box 2258
Idaho Falls, ID 83403
Tel: (208)524-3857
Fax: (205)524-3857
Tel: (866)213-0394
Email: jsanders@hypopara.org
Website: http://www.hypopara.org

International 22q11.2 Deletion Syndrome Foundation, Inc.

P.O. Box 2269
Cinnaminson, NJ 08077
Tel: 877-739-1849
Email: info@22q.org
Website: http://www.22q.org

MyFace

333 East 30th Street, Lobby Unit
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534
Email: info@myface.org
Website: http://www.myface.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
Website: http://www.nidcr.nih.gov/

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
Email: nidcdinfo@nidcd.nih.gov
Website: http://www.nidcd.nih.gov

Velo-Cardio-Facial Syndrome Educational Foundation

P.O. Box 12591
Dallas, TX 75225
USA
Tel: (214)360-4740
Email: info@vcfsef.org
Website: http://www.vcfsef.org

We Are R.A.R.E.

4208 Chateau Rd.
Orlando, FL 32808
USA
Tel: 407-617-4111
Email: tricia.dennis@wearerare.org
Website: http://www.WeAreRARE.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  4/28/2010
Copyright  2010 National Organization for Rare Disorders, Inc.

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Chromosome 22q11.2 Deletion Syndrome