BOS Awareness Day 2026
Bohring-Opitz syndrome (ASXL1) is a rare neurodevelopmental disorder caused by a genetic mutation in the ASXL1 gene. It often involves severe developmental delays and distinct facial features, and due to medical complications, infant mortality is high. Only a few reach adulthood. Aside from the difficulties of raising a child with so many challenges, the greatest fear is that we will lose our beloved children far too early.
But what happens when a parent dies?
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What would it be if all our children were born healthy …. We love our children like any other and do everything to make their lives as livable and beautiful as possible. We really want to embrace every unique trait of our loved ones, while steering clear of using terms like “dysfunction,” “impairment,” or anything…
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It certainly wouldn’t have escaped your notice… We have decided not use on the social medium platform ‘X’, formerly ‘Twitter’ anymore. In practice, we have stopped posting new tweets and responding to others. The existing tweets will remain accessible for information purposes. Moreover, in the news items on our website, the button to share the…
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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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Bohring-Opitz Syndrome/ASXL1 