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22q11.2 Deletion Syndrome

What is 22q11.2 Deletion Syndrome?

22q11.2 Deletion Syndrome is a genetic disorder caused by the deletion of a small segment of the long arm of chromosome 22.

 

22q11.2 Deletion Syndrome is a genetic disorder caused by the deletion of a small segment of the long arm of chromosome 22.
Acknowledgement of 22q11.2 Deletion Syndrome has not been added yet.
Prevalence Information of 22q11.2 Deletion Syndrome has not been added yet.
Synonyms for 22q11.2 Deletion Syndrome has not been added yet.
22q11.2 Deletion Syndrome is caused by a missing (or deleted) part of the 22 chromosome, including some of the genes within it.
There are several symptoms that affect people with 22q11.2 Deletion Syndrome.
Name Description
Seizures Seizures
Hypocalcemia Hypocalcemia
Hearing loss Hearing loss
Autism Autism
Autoimmune disorders Autoimmune disorders
Learning difficulties Learning difficulties
Congenital heart disease Congenital heart disease
Skeletal abnormalities Skeletal abnormalities
Growth hormone deficiency Growth hormone deficiency
Palatal abnormalities Palatal abnormalities
Diagnosis of 22q11.2 Deletion Syndrome has not been added yet.
Diagnostic tests of 22q11.2 Deletion Syndrome has not been added yet
Treatments of 22q11.2 Deletion Syndrome has not been added yet.
Prognosis of 22q11.2 Deletion Syndrome has not been added yet.
Tips or Suggestions of 22q11.2 Deletion Syndrome has not been added yet.
References of 22q11.2 Deletion Syndrome has not been added yet.
behavior survey Created by Ettina
Last updated 12 Jan 2013, 02:52 PM

spreading the word Created by alawlor
Last updated 8 Apr 2011, 02:00 AM

Posted by lesley1924
8 Apr 2011, 02:00 AM

Dr. Sprintzen in NY? I believe that's how his name is spelled. He's been conducting studies on VCFS for almost 15 years at Upstate U in NY. (My sister, who has VCFS, has been a part of the study since she was 3... she is 17 now.)

Posted by alawlor
7 Oct 2009, 09:58 PM

....or the vcfsef

Posted by Lindsey
7 Oct 2009, 09:46 PM

maybe someone could contact CHOP....

View Full Thread (5 more posts)
VCFS or 22q11.2 deletion syndrome Created by VCFS
Last updated 19 Sep 2010, 11:14 PM

Posted by VCFS
19 Sep 2010, 11:14 PM

This syndrome needs awareness in the medical and professional community. 1 in 2000 people are affected, 99% will have learning difficulties and 30% will develop a mental illness. Spread the word

VCFS or 22q11.2 deletion syndrome Created by VCFS
Last updated 19 Sep 2010, 11:14 PM

Posted by VCFS
19 Sep 2010, 11:14 PM

This syndrome needs awareness in the medical and professional community. 1 in 2000 people are affected, 99% will have learning difficulties and 30% will develop a mental illness. Spread the word

sharing knowledge globally Created by alawlor
Last updated 21 Sep 2008, 11:00 PM

Posted by Lindsey
21 Sep 2008, 11:00 PM

Hi my name is Lindsey..My son Lukas has 22q11.2 micro-duplication. I know that this is for the deletion but my son's syndrome isn't on here as of yet so I thought maybe people that are familiar with deletion have also heard of duplication. If anyone knows about it or has even heard about it please let me know. Thanks, Lindsey You can e-mail me at lindseysuks@yahoo.com

Posted by alawlor
2 Sep 2008, 09:28 PM

I just have to say that I am delighted to have the opportunity to share with others on a global scale on issues related to rare chromosome disorders and 22q11.2 deletion in particular. It really is extraordinary to think of the connections that can be made worldwide and to know that this knowledge is for everyone. I sincerely hope that in particular those that are affected by rare chromosome disorders benefit the most and are encouraged to join in the discussions thereby helping them to realise their full potential and helping the rest of us to learn from them. I for one have a lot to learn and they have a lot to teach me.

Community Resources
Title Description Date Link
22q11.2 Deletion Syndrome Foundation

22q is a non-profit organization that was founded by parents in an effort to bring awareness and support for this virtually unknown condition. The organization is built on the belief that, although there may be no cure for the deletion, through identification, appropriate treatment, research and education there can be, in fact, a better quality of life for those living with this condition and their families.

03/20/2017
22q11 Ireland

22q11 Ireland provides help and support for individuals and families affected by 22q11.2 deletion, DiGeorge Syndrome, and V.C.F.S. Through education, research, outreach and advocacy 22q11 Ireland seeks to raise awareness of this little known condition.

03/20/2017
Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation

The Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation is an international not-for-profit organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of -- and not affiliated with -- any particular institution.

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

 

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Community User List

I have a daughter born 1971 with trisomi 22  (11q22q translocation) and Pierre Robin Syndrome.

I would love to exchange photographs and expiriences with parent with similar child

I'm an advocate for my son with 22q11 .2 deletion syndrome.
Mother of a son with 22q11.2 deletion syndrome non-DiGeorge. He is only missing about 1/3 of 22q11.2 -- the back half we like to say.
I have a son with 22q. He is 2 years old.
Very empathetic and very invested in understanding.
My name is Garrett Irons, I'm 23-years-old living in Blaine, Minnesota with my mom. And I'm one lucky rare bug that's for sure. I have 22q11.2 Deletion Syndrome and a few sub-symptoms include...
My son, Garrett, was born with Chromosome 22q deletion syndrome. Since then he has worked through several life-threatening, painful and/or just plain difficult health and behavior issues. We hoped...
Full time mom
I am a parent of an adult son with deletion 22q11. We are facing many challenges and need parent to parent support, advocacy,and financial support
I have a 3 year old son with Deletion 22q Syndrome.
I'm a PT who works with children with developmental delays. I'm on this site to learn more about the kids who have rare chromosomal abnormalities in order to better help them and their families.
Mother of 3 children one with VCFS/22q11.2

 

President of the VCFS 22q11 Foundation Australia
My son was diagnosed with 22q11.2 deletion syndrome in 12/08. He just turned 3 in June. I am looking to connect with other families dealing with the same issues.
my daughter is 6 and has been diagnosed with 22q11 . she has a deformed palate and major speech disorder. She gets sick all the time.
I am married with four sons the second youngest of which (Liam born 2004) has Di George

 

 

I am associated with 22q11 ireland and want to be able to help Liam in any which way I can.

...

My name is Lindsey and my son's name is Lukas. When he was 2 months old he was diagnosed with micro-duplication of chromosome 22q11.2. He is 8 months old and has had 2 heart surgeries. He has a...
I have a 17 month old daughter with 22q11 deletion syndrome.

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Discussion Forum

behavior survey

Created by Ettina | Last updated 12 Jan 2013, 02:52 PM

spreading the word

Created by alawlor | Last updated 8 Apr 2011, 02:00 AM

VCFS or 22q11.2 deletion syndrome

Created by VCFS | Last updated 19 Sep 2010, 11:14 PM

VCFS or 22q11.2 deletion syndrome

Created by VCFS | Last updated 19 Sep 2010, 11:14 PM

sharing knowledge globally

Created by alawlor | Last updated 21 Sep 2008, 11:00 PM


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