Germline mutation but no BOS

We have learned that  germline mutations of human ASXL1 is the cause of Bohring-Opitz  syndrome (BOS). Germline means its a novo ASXL1 mutation, the gene mutates at conception, creating a developmental disorder that leads to BOS. Patients with somatic ASXL1 mutation (the mutation formed during later life) have an increased risk of myelodysplasia (MDS), myeloproliferative…

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New cause for BOS?

Researchers have expanded the clinical spectrum of KLHL7 […] by describing a syndrome with features overlapping CS/CISS1 (Crisponi syndrome/cold-induced sweating syndrome type 1) and Bohring-Opitz Syndrome (BOS). At six patients with microcephaly, facial dysmorphism, including exophthalmos, nevus flammeus of the glabella and joint contractures with a suspected BOS posture in five out of six patients…

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The BOS Registry

Our best chance to help individuals who are affected by Bohring-Opitz Syndrome (BOS) is a registry that will collect important information about raising a child with BOS and their medical history and build a resource for a better understanding of this rare disease for patients, caregivers as well for medical professionals. The amount knowledge started…

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Surveillance Recomendation

A new publication in the AACR (American Association for Cancer Research) by Jennifer M. Kalish and colleagues about uniform tumor screening recommendations for rare syndromes with increased risk for Wilms tumor, hepatoblastoma and other embryonal tumors like Bohring-Opitz Syndrome. “In the 43 cases reported by Russell and colleagues (2015), two patients developed WT and one…

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New Leaflet about BOS by Unique

Unique has published a new leaflet about Bohring-Opitz Syndrome (BOS)! Written by Dr. Joanna Kennedy1 and reviewed by Professor Ruth Newbury – Ecob2 this information guide is an exceptional user guide designed to help families, caregivers, educators, and medical professionals, alike, understand and plan appropriate care for children with Bohring-Opitz Syndrome. Unique, winners of Eurodis Patient…

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29 Facts about BOS

On the occation of Rare Disease Day last year we published 29 #BOSFACTS. A year has past and these facts about Bohring-Opitz Syndrome are still up to date. The Rare Disease Day slogan is this year  ‘With research, possibilities are limitless’. Let’s go for it! #BOSFACT 1   RARE Bohring-Opitz Syndrome is RARE – fewer than…

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Rare Disease Day

Today is the international Rare Disease Day – 28 February 2017. This year it is all about RESEARCH. Research is the key to more knowledge and a better understanding of rare diseases like Bohring-Opitz Syndrome (BOS) with the aim of finding treatments and a cure. BOS is an ultra rare disease with less than 60…

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Best Practice of BOS

Having a child with Bohring-Opitz Syndrome (BOS) is an ongoing learning process and can be challenging at times given the complexity of the illness, especially since there is still little known about the clinical management of children with Bohring-Opitz Syndrome. We, parents and caregivers, are always looking to find the best way to improve the…

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XAN

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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