Bohring-Opitz Syndrome / ASXL1
All about “What is Bohring-Opitz Syndrome/ASXL1 (BOS Syndrome)?”
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Family support group
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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BOS/ASXL Registry
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…
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Season’s Greetings
Meeting each other
Nothing can replace a face-to-face meeting. This is such an amazing and precious moment and meant a world for families of children with Bohring-Opitz Syndrome. A dream comes out “For the love of Lauren Marie Graham – Bohring-Opitz Syndrome”.
Read MoreKULUUT
We can’t wait to see the whole documentary KULUUT! A documentary about a little boy with Bohring-Opitz Syndrome from the Netherlands. Today we received the Newsletter from Charlotte Driessen, producer and regisseur about their visit in Spain and more interesting announcements. Watch the » new trailer of KULUUT! Trailer Kuluut (English) December – 2015 from Charlotte Driessen…
Read MoreA boy from Libya
Nearly all medical publications about Bohring-Opitz Syndrome (BOS) come from Europe and the United States of America. This case report by Yousef Assaleh is from Libya and documents a boy with BOS. Although this patient did not have the physical BOS characteristics (upper limb deformities or radial dislocation, ulnar deviation of the hands, and prominent eyes…
Read MoreHazel
A new Family story! “I was told I had the pregnancy that every woman dreams of. But at my 38 week check-up, the midwives were concerned about my baby’s vitals. They ordered an ultrasound and discovered she was very small. I was induced that evening in case she wasn’t thriving in the womb. After a…
Read MoreNEW SEQUENCING CAMPAIGN FOR OTCS AND BOS
Originally posted on science and spice…:
Dear Families, I’m Dr. Roser Urreizti, a member of a research team from the Genetics Department at University of Barcelona led by Prof. Grinberg and Dr. Balcells. Since 2011 we have been investigating the genetic cause of OTCS and BOS Syndromes, in collaboration with Prof. J. Opitz and Prof.…
Foundation
This initiative is led by three families who have children with BOS in the U.S. You can donate and become a member for $25.00 which will allow you to receive quarterly news updates about the Foundation. We wish them the best of luck with this new endeavor!
Read MoreBohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant
A new article on Bohring-Opitz Syndrome: Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. The auteurs, Silvana Beatriz Dangiolo, Ashley Wilson, Vaidehi Jobanputra and Kwame Anyane-Yeboa emphasize the importance of further phenotypic delineation of Bohring-Opitz Syndrome. In this case report whole exome sequencing analysis detected one novel disruptive frameshift…
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Annessia
When I read Annessia’s story I felt overwhelmed, I went through a mix of emotions: resentment and fear but also hope, pride, admiration, love and joy. On 9/9/2015 Annessia was diagnosed with Bohring-Opitz syndrome. Please meet this strong and lovely princess. Many thanks to Annessia’s parents for sharing her story! You can read this new family…
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Bohring-Opitz Syndrome/ASXL1 