What is 22q?

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WHAT IS 22q DELETION SYNDROME?

       

22q or "22q11.2 Deletion Syndrome" (also referred to as 22qDS, VCFS, or DiGeorge syndrome) 

A disorder caused by a small missing piece of the 22nd chromosome.  This tiny missing portion of chromosome 22 can affect every system in the human body.  22q can be the cause of nearly 200 mild to serious health and developmental issues in children.  22q is often times not recognized as the cause of health and/or developmental issues for years. 

Every child born with 22q presents a unique set of the possible 180 symptoms and rarely, (if ever) does 22q simply present one issues alone.  But rather, each child manifests 22q in a multiple ways that are unique to him or her.  Many times, this scattered collection of issues impedes the proper diagnosis for years.  Due in large part to the fact that geneticists, cardiologists, and ENT’s have only recently begun to recognize just how often these common issues can be directly attributed to this partial deletion of the 22nd chromosome. 

      

This knowledge has yet to catch up to the general public or health care professionals.  This leads many to believe the 1 in 2000 to 4000 estimated number of children born each year with 22q, is likely a gross underestimation of the actual numbers. 

You may be surprised to learn that the issues most commonly linked to 22qDS are among some of the most commonly recognized health issues for newborns and children worldwide.  This list includes but is not limited to the following; Growth delays, feeding problems, congenital heart disease, gastrointestinal difficulties, serious breathing concerns, cleft and craniofacial issues, calcium deficiencies, immune deficiencies, kidney problems, and skeletal anomalies. This list also includes the possibility of speech, developmental and cognitive delays, as well as ADHD, Autism and many anxiety-type disorders.

Early diagnosis of 22q deletion syndrome is the key to properly addressing all 180 issues which can be associated with the disorder.

For more information please visit our “22q Resources” page for a list of clinics and professionals familiar with 22q deletion syndrome.

 

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