Name of condition
This video about Xan is just too beautiful not to be shared. It touched me in so many ways. Xan has Bohring-Opitz Syndrome. His mother Danielle brings us in a stirring manner to consciousness how strong and inseparably but also so ethereal and impermanent love, light and life to our children are bound together, yet…
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We are very excited that families of a child with Bohring-Opitz syndrome (BOS) have submitted until now 150 new images. A while ago we asked parents of the BOS family, united in the Bohring-Opitz syndrome support group, to help Face2Gene by uploading images of their children. Face2Gene is a genetic search and reference tool powered by…
Read MoreWe are so excited! The new Trailer of KULUUT is promising to be a great documentary. A documentary made by C Amzing Films about a family with an extraordinary child with a rare syndrome, the Bohring-Opitz Syndrome, but most of all about the happiness of the family, even when they experience some difficult times. See…
Read MoreWe, the Bohring-Opitz Syndrome Support Group, are supporting the FDNA (Facial Dysmorphology Novel Analysis) project ‘Face2Gene’. Bohring-Opitz Syndrome (BOS), which has with less than 60 children recognized in medical history, is a very rare genetic disorder and knowledge of BOS is still in its early stages. By supporting the groundbreaking Face2Gene project we want to be at the forefront of…
Read MoreWe 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 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…
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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…
Read MoreWow – This is very interesting and special for us! Today the first study about clinical management of children with BOS by Bianca Russell and colleagues is published! http://onlinelibrary.wiley.com/…/10.…/ajmg.a.37131/abstract…
Read MoreWhat a better day to share this new family story as the Awareness Day! Where do I start… My pregnancy was perfect, there were no problems at all until I reached 39 weeks and Ben stopped moving as much. I didn’t have a planned visit for the midwife so I phoned the hospital who asked me to…
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Bohring-Opitz Syndrome/ASXL1 