22q11.2 Deletion Syndrome

Common Name(s)

22q11.2 Deletion Syndrome, DiGeorge sequence, Shprintzen syndrome, DiGeorge Syndrome, Velocardiofacial Syndrome (VCFS), Conotruncal Anomaly Face Syndrome (CTAF)

22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. Signs and symptoms may include cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, immune system disorders, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "22q11.2 Deletion Syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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22q11 Ireland

We provide mutual help and support for individuals and families affected by 22q11.2 deletion/DiGeorge Syndrome/V.C.F.S. Through education, research, outreach and advocacy we seek to raise awareness of this little known condition.

Last Updated: 2 May 2013

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22qcentral.org

22qCentral.org is an internet community directory, created to raise awareness of the Chromosome 22q11 Deletion (aka) VCFS through an international resource center that serves to empower parents, caregivers and professionals, by teaching a multitude of skills to efficiently live with and/or teach those that have 22q11.2 Deletion chromosomal disorder.

Last Updated: 11 Feb 2013

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Chromosome 22 Central

Our mission is to provide support and information to families or individuals affected by disorders of chromosome 22.

Last Updated: 11 May 2014

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International 22q11.2 Foundation, Inc

Our mission is improving the quality of life for individuals affected by the 22q11.2 through family and professional partnerships.

Last Updated: 28 Dec 2012

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Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

Last Updated: 2 Aug 2013

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Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 4 May 2015

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The Dempster Family Foundation

Dedicated to improving the quality of life for those affected by 22q11.2 Deletion Syndrome. We do this through partnerships that positively impact the growing community of 22q families around the world in areas of awareness, research, family support networks, and education.

Last Updated: 5 May 2014

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VCFS 22q11 Foundation

Our mission is to support those affected by 22q11.2 Deletion Syndrome, raise awareness, and promote education programs.

Last Updated: 22 Sep 2010

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VCFS Texas, Inc.

The purpose of VCFS Texas, Inc. (22q Texas) is to provide support and resources to individuals with 22q11.2 deletion syndrome a.k.a. Velocardiofacial syndrome (VCFS) or DiGeorge syndrome (collectively "22q"), their families, professionals, and the community in Texas. We achieve this purpose by: - Increasing public awareness and understanding about VCFS/22q; - Creating a forum for the exchange of information, ideas and experiences related to VCFS/22q; - Improving the provision of services and supports to people with VCFS/22q through governmental agencies, the medical and therapeutic community, educational institutions and non-profit organizations; - Providing education, resources and support to parents and educators to ensure quality medical and therapeutic treatment for individuals with VCFS/22q in accordance with up-to-date scientific research; - Providing educational resources and support to parents and educators to ensure quality education which will prepare individuals wi

Last Updated: 15 Nov 2012

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Velo-Cardio-Facial Syndrome Educational Foundation, Inc.

The Velo-Cardio-Facial Syndrome Educational Foundation, Inc. is an organization comprised of both professional and lay people whose purpose is to educate the public, the scientific community, families of individuals with Velo-Cardio-Facial syndrome, and individuals with Velo-Cardio-Facial syndrome (VCF) about this common genetic disorder.

Last Updated: 10 Jan 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "22q11.2 Deletion Syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

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22q11 Ireland

We provide mutual help and support for individuals and families affected by 22q11.2 deletion/DiGeorge Syndrome/V.C.F.S. Through education, research, outreach and advocacy we seek to raise awareness of this little known condition.

http://www.22q11ireland.org

Last Updated: 2 May 2013

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22qcentral.org

22qCentral.org is an internet community directory, created to raise awareness of the Chromosome 22q11 Deletion (aka) VCFS through an international resource center that serves to empower parents, caregivers and professionals, by teaching a multitude of skills to efficiently live with and/or teach those that have 22q11.2 Deletion chromosomal disorder.

http://22qcentral.org

Last Updated: 11 Feb 2013

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Chromosome 22 Central

Our mission is to provide support and information to families or individuals affected by disorders of chromosome 22.

http://www.c22c.org

Last Updated: 11 May 2014

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International 22q11.2 Foundation, Inc

Our mission is improving the quality of life for individuals affected by the 22q11.2 through family and professional partnerships.

http://www.22q.org

Last Updated: 28 Dec 2012

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Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

http://www.isabellasaviary.com

Last Updated: 2 Aug 2013

View Details
Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 4 May 2015

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The Dempster Family Foundation

Dedicated to improving the quality of life for those affected by 22q11.2 Deletion Syndrome. We do this through partnerships that positively impact the growing community of 22q families around the world in areas of awareness, research, family support networks, and education.

http://www.DempsterFoundation.org

Last Updated: 5 May 2014

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VCFS 22q11 Foundation

Our mission is to support those affected by 22q11.2 Deletion Syndrome, raise awareness, and promote education programs.

www.vcfsfa.org.au

Last Updated: 22 Sep 2010

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VCFS Texas, Inc.

The purpose of VCFS Texas, Inc. (22q Texas) is to provide support and resources to individuals with 22q11.2 deletion syndrome a.k.a. Velocardiofacial syndrome (VCFS) or DiGeorge syndrome (collectively "22q"), their families, professionals, and the community in Texas. We achieve this purpose by: - Increasing public awareness and understanding about VCFS/22q; - Creating a forum for the exchange of information, ideas and experiences related to VCFS/22q; - Improving the provision of services and supports to people with VCFS/22q through governmental agencies, the medical and therapeutic community, educational institutions and non-profit organizations; - Providing education, resources and support to parents and educators to ensure quality medical and therapeutic treatment for individuals with VCFS/22q in accordance with up-to-date scientific research; - Providing educational resources and support to parents and educators to ensure quality education which will prepare individuals wi

http://www.vcfstexas.com

Last Updated: 15 Nov 2012

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Velo-Cardio-Facial Syndrome Educational Foundation, Inc.

The Velo-Cardio-Facial Syndrome Educational Foundation, Inc. is an organization comprised of both professional and lay people whose purpose is to educate the public, the scientific community, families of individuals with Velo-Cardio-Facial syndrome, and individuals with Velo-Cardio-Facial syndrome (VCF) about this common genetic disorder.

http://www.vcfsef.org

Last Updated: 10 Jan 2013

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General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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22Q University Video Library

http://dempsterfamilyfoundation.org/videos/44

Updated 5 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "22q11.2 Deletion Syndrome" returned 170 free, full-text research articles on human participants. First 3 results:

An affected core drives network integration deficits of the structural connectome in 22q11.2 deletion syndrome.
 

Author(s): František Váša, Alessandra Griffa, Elisa Scariati, Marie Schaer, Sébastien Urben, Stephan Eliez, Patric Hagmann

Journal:

 

Chromosome 22q11.2 deletion syndrome (22q11DS) is a genetic disease known to lead to cerebral structural alterations, which we study using the framework of the macroscopic white-matter connectome. We create weighted connectomes of 44 patients with 22q11DS and 44 healthy controls using ...

Last Updated: 12 Feb 2016

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Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening.
 

Author(s): L Hui

Journal: Ultrasound Obstet Gynecol. 2016 Feb;47(2):137-41.

 

Last Updated: 2 Feb 2016

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Early-onset Parkinson's Disease Associated with Chromosome 22q11.2 Deletion Syndrome.
 

Author(s): Mitsuaki Oki, Shin-ichiro Hori, Shinya Asayama, Reika Wate, Satoshi Kaneko, Hirofumi Kusaka

Journal: Intern. Med.. 2016 ;55(3):303-5.

 

We herein report the case of a 43-year-old man with a 4-year history of resting tremor and akinesia. His resting tremor and rigidity were more prominent on the left side. He also presented retropulsion. His symptoms responded to the administration of levodopa. The patient also had ...

Last Updated: 2 Feb 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "22q11.2 Deletion Syndrome" returned 19 free, full-text review articles on human participants. First 3 results:

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.
 

Author(s): Kerri L Tang, Kevin M Antshel, Wanda P Fremont, Wendy R Kates

Journal: J Dev Behav Pediatr. 2015 Oct;36(8):639-50.

 

22q11.2 Deletion syndrome (22q11.2DS) is a chromosomal microdeletion that affects approximately 40 to 50 genes and affects various organs and systems throughout the body. Detection is typically achieved by fluorescence in situ hybridization after diagnosis of one of the major features ...

Last Updated: 29 Sep 2015

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Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.
 

Author(s): Daniel W Meechan, Thomas M Maynard, Eric S Tucker, Alejandra Fernandez, Beverly A Karpinski, Lawrence A Rothblat, Anthony-S LaMantia

Journal: Prog. Neurobiol.. 2015 Jul;130():1-28.

 

Understanding the developmental etiology of autistic spectrum disorders, attention deficit/hyperactivity disorder and schizophrenia remains a major challenge for establishing new diagnostic and therapeutic approaches to these common, difficult-to-treat diseases that compromise neural ...

Last Updated: 16 Jun 2015

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Practical guidelines for managing adults with 22q11.2 deletion syndrome.
 

Author(s): Wai Lun Alan Fung, Nancy J Butcher, Gregory Costain, Danielle M Andrade, Erik Boot, Eva W C Chow, Brian Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman, Sixto García-Miñaúr, Susan George, Anthony E Lang, Gabriela Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Therese van Amelsvoort, Donna M McDonald-McGinn, Anne S Bassett

Journal: Genet. Med.. 2015 Aug;17(8):599-609.

 

22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical ...

Last Updated: 5 Aug 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 15 Sep 2016

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The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
 

Status: Recruiting

Condition Summary: Velocardiofacial Syndrome; Williams Syndrome; Fragile X Syndrome

 

Last Updated: 28 Jan 2016

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Non-Invasive Chromosomal Evaluation of 22q11.2
 

Status: Recruiting

Condition Summary: DiGeorge Syndrome, Velocardiofacial Syndrome, 22q.11.2 Deletion Syndrome

 

Last Updated: 15 Jul 2016

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