All about “What is Bohring-Opitz Syndrome/ASXL1 (BOS Syndrome)?”
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Join this welcoming, safe, and friendly place and be able to participate and receive important treatment information. We, parents and caregivers from 60 countries, might not know all the answers, as you, we are always looking to find the best way to improve the life of our child with Bohring-Opitz Syndrome (BOS). But – together we are not…
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ASXL Natural History Study This registry, formerly called the ASXL Chromatin Disorders Registry/ASXL Registry, has been created to collect information about Bohring-Opitz Syndrome and ASXL related disorders in order to achieve a better understanding of these rare conditions for patients, caregivers and medical professionals. A well run registry helps produce scientific literature and leads to…
Read MoreHere at BOS headquarters and at our support group, we are often asked about the best ways to care for children with BOS. Because every BOS child is unique and we don’t really like the idea of giving out “instructions” but we have written this information document “Living with Bohring-Opitz Syndrome” to provide guidance to…
Read MoreRussell et al. (p. 2122, DOI: 10.1002/ajmg.a.37131) suggests certain patients with Bohring–Opitz syndrome (BOS) should be monitored for Wilms tumors. In her recent publication on Bohring-Opitz Syndrome two of the eight new patients with ASXL1 mutations were diagnosed with bilateral Wilms tumor. Mutations in ASXL1 gene cause Bohring-Opitz Syndrome. Read here the article: The AMJG sequence:…
Read MoreWhy this name? Why has the Bohring-Opitz Syndrome support group on Facebook the name https://www.facebook.com/groups/okketje/? “Okketje” is a term of endearment and means wee Okke. 2007 Okke, a little boy from The Netherlands was born with Bohring-Opitz Syndrome (BOS). When he got this diagnosis, just three weeks after his birth, there were only 20 children…
Read MoreInfographie de le Syndrome de Bohring-Opitz est maintenant aussi en Français !
Read MoreAnche la Sindrome di Bohring-Opitz ha la sua locandina in lingua italiana. BOS infografica italiana pdf
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Bohring-Opitz Syndrome has his own infographic!By following the link https://bohring-opitz.org/bos-infographic/ you can download the infographic also as jpeg and in different languages. We thank all the parents and friends of the children with Bohring-Opitz syndrome by helping us to make the BOS infographic available in multiple languages!
Read MoreHilary Vernon referred (post filed under Part 04: CANCER on OMMBIDBLOG ) to the recently published study on Bohring-Opitz syndrome (BOS) by Bianca Russell and colleagues and pointed out the risk of Wilms tumor in patients with BOS. Read here the article.
Read MoreKULUUT What makes us happy, what gives us strength? Those are the questions Charlotte Driessen tries to get an answer with her documentary about Coen and his special family. Coen, this four years old little boy, comes from The Netherlands and has gotten the diagnosis Bohring-Opitz Syndrome in 2012. A diagnosis that raise much uncertainty and…
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Bohring-Opitz Syndrome/ASXL1 