22q11.2 Deletion Syndrome

Common Name(s)

22q11.2 Deletion Syndrome, DiGeorge sequence, Shprintzen syndrome, DiGeorge Syndrome, Velocardiofacial Syndrome (VCFS)

22q11.2 deletion syndrome is a spectrum disorder encompassing what was formerly called DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and cases of Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.   It is characterized by a variety of symptoms, including cleft palate, heart defects, unique facial characteristics, learning and feeding problems, immune system disorders, hypoparathyroidism, and scoliosis. Symptoms can vary greatly from patient to patient. It is caused by a missing piece (deletion) of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. Click here to view a diagram of chromosome 22.
 

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: 24 Oct 2012

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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

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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.

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: 15 Aug 2013

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Unique - Rare Chromosome Disorder Support Group

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 2013

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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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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

View Details
Logo
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

View Details
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: 24 Oct 2012

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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: 30 Oct 2012

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: 15 Aug 2013

View Details
Unique - Rare Chromosome Disorder Support Group

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 2013

View Details
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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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 95 free, full-text research articles on human participants. First 3 results:

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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An adult case of 22q11.2 deletion syndrome diagnosed in a 36-year-old woman with hypocalcemia caused by hypoparathyroidism and Hashimoto's thyroiditis.
 

Author(s): Yuki Nakada, Ken Terui, Kazunori Kageyama, Yuko Tsushima, Hiroshi Murakami, Yasushi Soma, Takeshi Nigawara, Satoru Sakihara

Journal: Intern. Med.. 2013 ;52(12):1365-8.

 

22q11.2 Deletion syndrome is recognized to be a major cause of congenital hypoparathyroidism, and affected patients exhibit a range of autoimmune characteristics. The syndrome becomes apparent in early childhood and is rarely diagnosed in adulthood. This report describes an adult ...

Last Updated: 18 Jun 2013

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The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS).
 

Author(s): Marianne B M van den Bree, Gregory Miller, Elizabeth Mansell, Anita Thapar, Frances Flinter, Michael J Owen

Journal: Eur J Med Genet. 2013 Aug;56(8):439-41.

 

With advances in laboratory technology, an increasing number of potentially pathogenic CNVs is recognised. The phenotypic effects of some CNVs are well characterised, however, it remains unclear how much information reaches the parents of affected children and by what route. The 22q11.2 ...

Last Updated: 12 Aug 2013

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

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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Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.
 

Author(s): Nicole Philip, Anne Bassett

Journal: Behav. Genet.. 2011 May;41(3):403-12.

 

22q11.2 Deletion syndrome has become an important model for understanding the pathophysiology of neurodevelopmental conditions, particularly schizophrenia which develops in about 20-25% of individuals with a chromosome 22q11.2 microdeletion. From the initial discovery of the syndrome, ...

Last Updated: 26 May 2011

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
 

Author(s): Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Suñer, Victor Martinez-Glez, Sixto García-Miñaur, Rebeca Palomo, Alicia Delicado, Isidora López Pajares, María Palomares, Luis García-Guereta, Eva Valverde, Federico Hawkins, Pablo Lapunzina

Journal:

 

Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial ...

Last Updated: 23 Jun 2009

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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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Thymus Transplantation Safety-Efficacy
 

Status: Recruiting

Condition Summary: Complete DiGeorge Anomaly; DiGeorge Syndrome; DiGeorge Anomaly; Complete DiGeorge Syndrome

 

Last Updated: 31 Mar 2014

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Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
 

Status: Recruiting

Condition Summary: DiGeorge Syndrome; Shprintzen Syndrome; Chromosome Abnormalities; Abnormalities, Multiple; Conotruncal Cardiac Defects

 

Last Updated: 23 Jun 2005

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