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Chromosome 22q11.2 Deletion Syndrome

National Organization for Rare Disorders, Inc.

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



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.

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