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Goldberg Shpintzen Megacolon Syndrome
Hello. I am brand new to this group. My daughter was just diagnosed with Goldberg Shprintzen Megacolon Syndrome. We have been searching for over 20 years! We were told there are only 10 documented cases IN THE WORLD!! We are trying to connect with other families who have children affected by this syndrome. If there is anyone reading this post who wishes to contact me, please do so. Thank you :)
there is 15 in the world and so many more undiagnosed...but I know your name and you have spoke to me in past posts so you should know that...do your homework santos
Thank you for your reply. We have actually contacted NORD; however, this syndrome is not yet in their database!
1 Comments
Are you still active on this group?
MEDICAL PROFESSIONAL
HI,
Goldberg-Shprintzen megacolon syndrome is indeed a very rare genetic condition and has been described in about 10-15 individuals to date. Aside from this forum, you can also check out RareShare or organizations such as National Organization for Rare DIsease/NORD. Hope this helps. Take care and best regards.
Goldberg-Shprintzen megacolon syndrome is indeed a very rare genetic condition and has been described in about 10-15 individuals to date. Aside from this forum, you can also check out RareShare or organizations such as National Organization for Rare DIsease/NORD. Hope this helps. Take care and best regards.
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