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.

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: 30 Oct 2012

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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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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: 21 Jul 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.

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: 30 Oct 2012

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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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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: 21 Jul 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 111 free, full-text research articles on human participants. First 3 results:

Children with chromosome 22q11.2 deletion syndrome exhibit impaired spatial working memory.
 

Author(s): Ling M Wong, Tracy Riggins, Danielle Harvey, Margarita Cabaral, Tony J Simon

Journal: Am J Intellect Dev Disabil. 2014 Mar;119(2):115-32.

 

Individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS) have been shown to have impairments in processing spatiotemporal information. The authors examined whether children with 22q11.2DS exhibit impairments in spatial working memory performance due to these weaknesses, even ...

Last Updated: 31 Mar 2014

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Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.
 

Author(s): Michael J Zeitz, Paula P Lerner, Ferhat Ay, Eric Van Nostrand, Julia D Heidmann, William S Noble, Andrew R Hoffman

Journal: Nucleus. ;4(6):487-93.

 

22q11.2 deletion syndrome (22q11DS) results from a hemizygous microdeletion on chromosome 22 and is characterized by extensive phenotypic variability. Penetrance of signs, including congenital heart, craniofacial, and neurobehavioral abnormalities, varies widely and is not well correlated ...

Last Updated: 12 Feb 2014

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Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
 

Author(s): Emilia Cirillo, Giuliana Giardino, Vera Gallo, Pamela Puliafito, Chiara Azzari, Rosa Bacchetta, Fabio Cardinale, Maria Pia Cicalese, Rita Consolini, Silvana Martino, Baldassarre Martire, Cristina Molinatto, Alessandro Plebani, Gioacchino Scarano, Annarosa Soresina, Caterina Cancrini, Paolo Rossi, Maria Cristina Digilio, Claudio Pignata

Journal:

 

22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial ...

Last Updated: 15 Jan 2014

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

Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.
 

Author(s): Shan Gao, Xiao Li, Brad A Amendt

Journal: Curr Allergy Asthma Rep. 2013 Dec;13(6):613-21.

 

22q11.2 deletion syndrome (22q11.2DS) is caused by a commonly occurring microdeletion on chromosome 22. Clinical findings include cardiac malformations, thymic and parathyroid hypoplasia, craniofacial dysmorphisms, and dental defects. These phenotypes are due mainly to abnormal development ...

Last Updated: 25 Nov 2013

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Converging levels of analysis on a genomic hotspot for psychosis: insights from 22q11.2 deletion syndrome.
 

Author(s): Matthew J Schreiner, Maria T Lazaro, Maria Jalbrzikowski, Carrie E Bearden

Journal: Neuropharmacology. 2013 May;68():157-73.

 

Schizophrenia is a devastating neurodevelopmental disorder that, despite extensive research, still poses a considerable challenge to attempts to unravel its heterogeneity, and the complex biochemical mechanisms by which it arises. While the majority of cases are of unknown etiology, ...

Last Updated: 18 Mar 2013

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In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review.
 

Author(s): Nicole E Spruijt, Judith Reijmanhinze, Greet Hens, Vincent Vander Poorten, Aebele B Mink van der Molen

Journal: PLoS ONE. 2012 ;7(3):e34332.

 

Patients with the 22q11.2 deletion syndrome (22qDS) and velopharyngeal dysfunction (VPD) tend to have residual VPD following surgery. This systematic review seeks to determine whether a particular surgical procedure results in superior speech outcome or less morbidity.

Last Updated: 3 Apr 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
 

Status: Recruiting

Condition Summary: DiGeorge Syndrome; 22q11.2 Deletion Syndrome

 

Last Updated: 7 Aug 2009

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Genetic Modifiers for 22q11.2 Syndrome
 

Status: Recruiting

Condition Summary: 22q11.2 Deletion Syndrome

 

Last Updated: 4 Aug 2010

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Genetics and Psychopathology in the 22q11 Deletion Syndrome
 

Status: Recruiting

Condition Summary: Chromosome 22q11.2 Deletion Syndrome

 

Last Updated: 12 Oct 2006

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