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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Finding support Having support and community resources can help increase your confidence in managing Bohring-Opitz-Syndrome (BOS), enhance quality of life, and assist in meeting the needs of other family members. Parenting is often challenging, and parenting a child with a chronic condition like BOS can add additional stress to the day-to-day challenges. If you are…
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A new publication was recently published by Patel et al. 2024 on two children with Bohring-Opitz Syndrome, who are diagnosed with liver cancer. These two, together with a previously known case, are now three individuals diagnosed with hepatoblastoma described in the medical literature. Hepatoblastoma is a very rare malignant liver cancer occurring in infants and…
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It’s Bohring-Opitz Syndrome Awareness Day! This year we present Your Interactive Visual Aid (IVA) on the most common symptoms of Bohring-Opitz Syndrome (BOS), which have been described in the medical literature and case studies in recent years between 2006 – 2024. We also highlight treatment options noted in the important “Bohring-Opitz Syndrome” research. Although children with…
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Of course – we celebrate Bohring-Opitz Awareness Day with the new Interactive Visual Aid on the most common symptoms of BOS, based on medical literature.
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ASXL Registry update: REACH BIOBANK and ASXL Research Symposium and Family Conference 2024 in Baltimore, Maryland
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Last recruitment call for the BOS EEG Study. We are looking for 5 more people! Are your loved one the one to be part of this special study for Bohring-Opitz Syndrome? Our BOS family is strong because we learn from each other! We are grateful for the research opportunities focused on improving the lives of…
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A new update from the ASXL registry is given this month! This 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. In this newsletter, the actual numbers of registered individuals were displayed. At…
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The long-awaited sequel to the latest publication by Bianca Russell and her team has been released: “Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.” This follow-up to the publications in 2015 (Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing…
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COMING SOON: PUBERTY SURVEY FOR ALL ASXL FAMILIES! Dr. Bianca Russell, a pediatric geneticist from UCLA, reached out to let us know about a new Puberty Survey for all ASXL families that will be launched soon. The UCLA ASXL Registry team is currently working on a new survey regarding puberty in children with ASXL conditions.…
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It’s Bohring-Opitz Syndrome Awareness Day! This day was chosen because that’s the day that the Bohring-Opitz Syndrome support group was created on Facebook, on April 6th 2011! 11 years ago! This group has helped so many families to connect all over the world! With this awareness day we want to encourages people to learn more…
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Bohring-Opitz Syndrome 