Beckwith Wiedemann
Beckwith-Wiedemann
Beckwith-Wiedemann syndrome (BWS) is a rare genetic or epigenetic overgrowth syndrome (prevalence of about 1 in 15,000) associated with an elevated risk of embryonic tumor formation. There is a 20% mortality rate for newborns with BWS. BWS is caused by mutations in growth regulating genes on chromosome 11— caused by an inversion specifically on 11p15—or by errors in genomic imprinting.
Clinically, patients typically present with omphalocele, macroglossia (large tongue), and macrosomia (large birth weight). Organomegaly, adrenocortical cytomegaly, hemihypertrophy, and neonatal hypoglycemia may also been seen. Not all of these features appear in every individual with BWS. Macroglossia occurs in approximately 80% of cases and often results in ‘floppy’ airways which may require treatment with a tracheotomy.
Beckwith-Wiedemann Children’s Foundation
The Beckwith-Wiedemann Children’s Foundation is a non-profit, all volunteer foundation. All donations go towards assisting children and their families with Beckwith-Wiedemann Syndrome.
Comments
3 Responses to “Beckwith Wiedemann”
Leave a Reply
Beckwith Wiedemann Charity Foundation…
Beckwith Wiedemann Charity Foundation…
[…] alpine ski race on Sun Valley’s Dollar Mountain.http://www.mtexpress.com/index2.php?ID=2005119639Beckwith-Wiedemann Childrens FoundationBeckwith-Wiedemann Childrens Foundationhttp://healthcare.cheap-rx-pills.com/news/beckwith-wiedemann” […]
Thanks for information!