What is 22q?

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WHAT IS 22q DELETION SYNDROME?

THE MOST COMMON 'RARE' SYNDROME YOU'VE NEVER HEARD OF.

             

22q11.2 Deletion syndrome or 22q (also referred to as Velocardiofacial syndrome (VCFS), and/or DiGeorge syndrome) 

22q is 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.  It is often times not diagnosed or recognized as the cause of a childs health and/or developmental issues for years.  There are 8000 known rare disorders and they out number AIDS and Cancer combined.  Down Syndrome is the most commonly recognized chromosme disorder is.  22q11.2 Deletion Syndrome (22q) is thought to be the second most common.  Yet, most have never heard of it!

Because, every child born with 22q presents a unique set of the possible 180+ symptoms it is uniquely difficult for even the best doctors to recogonize .  Children 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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