Chromosome 22q11.2 Deletion Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 22q11.2 Deletion Syndrome is not the name you expected.
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.
"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: firstname.lastname@example.org or email@example.com
- 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.firstname.lastname@example.org
- Website: http://www.heart.org
Chromosome 22 Central
- c/o Murney Rinholm
- 7108 Partinwood Drive
- Fuquay-Varina, NC 27526
- Tel: (919)567-8167
- Email: email@example.com
- 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: firstname.lastname@example.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: email@example.com
- Website: http://www.hypopara.org
International 22q11.2 Deletion Syndrome Foundation, Inc.
- P.O. Box 2269
- Cinnaminson, NJ 08077
- Tel: 877-739-1849
- Email: firstname.lastname@example.org
- Website: http://www.22q.org
- 333 East 30th Street, Lobby Unit
- New York, NY 10016
- Tel: (212)263-6656
- Fax: (212)263-7534
- Email: email@example.com
- 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
- Tel: (301)496-4261
- Fax: (301)480-4098
- Tel: (866)232-4528
- Email: firstname.lastname@example.org
- 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: email@example.com
- Website: http://www.nidcd.nih.gov
Velo-Cardio-Facial Syndrome Educational Foundation
- P.O. Box 12591
- Dallas, TX 75225
- Tel: (214)360-4740
- Email: firstname.lastname@example.org
- Website: http://www.vcfsef.org
We Are R.A.R.E.
- 4208 Chateau Rd.
- Orlando, FL 32808
- Tel: 407-617-4111
- Email: email@example.com
- 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
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