Name of condition
Bianca Russell, Wen-Hann Tan and John M Graham have published a new comprehensive overview about Bohring-Opitz Syndrome (BOS) in GeneReviews. After the publication of the Unique leaflet by Joanna Kennedy (2017), the “Clinical management of patients with ASXL1 mutation and Bohring-Opitz Syndrome […]” by Bianca Russell and colleagues (2015) and previously published article about BOS…
Read MoreWe 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…
Read MoreResearchers 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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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…
Read MoreA 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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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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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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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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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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Bohring-Opitz Syndrome/ASXL1 