Guest guest Posted December 15, 2001 Report Share Posted December 15, 2001 Hi Kristi, another name for Shprintzen sydrome is Velo-Cardio-Facial Syndrome. " VCFS -- also known as the Shprintzen Syndrome, Di Sequence and... Catch 22 -- is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. " Here are a couple of good links to check out: Velo-Cardio-Facial Syndrome Educational Foundation -Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information. Velo-Cardio-Facial Syndrome (VCFS) - Overview of VCFS describing condition, causes and red flags. Provides contacts for more information and treatment. By the Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome, SUNY Upstate Medical University (USA). Clubs VCFS Family Support Join, post and read mail for this group which concerns Di Syndrome and Velo-Cardio-Facial Syndrome. SAIDA, - http://sunsite.wits.ac.za/saida/disorder/vcfs.html A definition of Velo-Cardio-Facial Syndrome along with a support group in Johannesburg. NORD - Velocardiofacial Syndrome - A list of the synonyms, a general discussion and further resources. [ ] missing chromosone Hi everyone! It's been a while since I've posted. My son 3.8 years has been seen by so many different doctors in the past 6 months. I have heard apraxia, autistic tendencies, ocd tendencies, low muscle tone, sensory issues, and something new. The neurolisit I saw said something about a syndrome (Sphrintzen) sp? He said that a chromosone is missing that effects speech. Has anyone heard about this. Any info is appreciated. Thanks, kristi Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 15, 2001 Report Share Posted December 15, 2001 oops - here are the hyperlinks to info about VCFS: http://vcfsef.org/ http://www.upstate.edu/ent/velo.shtml http://clubs./clubs/vcfsfamilysupport http://sunsite.wits.ac.za/saida/disorder/vcfs.html http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument & rectype=0 & recnum=853 Quote Link to comment Share on other sites More sharing options...
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