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

View Details
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

View Details
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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

View Details
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

View Details
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

View Details
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

View Details

 

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 187 free, full-text research articles on human participants. First 3 results:

Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.
 

Author(s): Peter Benn, Sushma Iyengar, Terrence Blaine Crowley, Elaine H Zackai, Evanette K Burrows, Solomon Moshkevich, Donna M McDonald-McGinn, Kathleen E Sullivan, Zachary Demko

Journal: Mol Genet Genomic Med. 2017 11;5(6):631-638.

 

The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure ...

Last Updated: 31 Dec 1969

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Graves' Disease in Pediatric and Elderly Patients with 22q11.2 Deletion Syndrome.
 

Author(s): Yoko Ueda, Shinsuke Uraki, Hidefumi Inaba, Sakiko Nakashima, Hiroyuki Ariyasu, Hiroshi Iwakura, Takayuki Ota, Hiroto Furuta, Masahiro Nishi, Takashi Akamizu

Journal: Intern. Med.. 2017 ;56(10):1169-1173.

 

22q11.2 Deletion Syndrome (22qDS) is often complicated by autoimmune diseases. To clarify the causal relationship, we examined the lymphocyte subset distribution and the human leucocyte antigen (HLA) in two female patients (one child and an elderly) with Graves' disease (GD) and 22qDS. ...

Last Updated: 31 Dec 1969

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An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch.
 

Author(s): Yoichi Hoshino, Moriya Machida, Shun-Ichi Shimano, Teizo Taya

Journal: Intern. Med.. 2017 ;56(7):865-872.

 

Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism and anomalies ...

Last Updated: 31 Dec 1969

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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 23 free, full-text review articles on human participants. First 3 results:

Mitochondria in complex psychiatric disorders: Lessons from mouse models of 22q11.2 deletion syndrome: Hemizygous deletion of several mitochondrial genes in the 22q11.2 genomic region can lead to symptoms associated with neuropsychiatric disease.
 

Author(s): Prakash Devaraju, Stanislav S Zakharenko

Journal: Bioessays. 2017 Feb;39(2):.

 

Mitochondrial ATP synthesis, calcium buffering, and trafficking affect neuronal function and survival. Several genes implicated in mitochondrial functions map within the genomic region associated with 22q11.2 deletion syndrome (22q11DS), which is a key genetic cause of neuropsychiatric ...

Last Updated: 31 Dec 1969

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The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome.
 

Author(s): Ann Swillen

Journal: Curr Opin Psychiatry. 2016 Mar;29(2):133-7.

 

The 22q11.2 deletion syndrome (velo-cardio-facial syndrome or DiGeorge syndrome) is the most common known contiguous gene deletion syndrome, and is associated with neurodevelopmental problems and diverse neuropsychiatric disorders across the life span. In this review, we discuss the ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Social Cognition Training and Cognitive Remediation
 

Status: Recruiting

Condition Summary: 22q11.2 Deletion Syndrome

 

Last Updated: 7 Feb 2018

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First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome
 

Status: Recruiting

Condition Summary: Pregnancy

 

Last Updated: 8 Jan 2018

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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: 20 Jul 2017

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