Updated GeneReviews provides important new guidance for Bohring-Opitz Syndrome care
One of the most important resources available to families and clinicians caring for individuals with Bohring-Opitz Syndrome (ASXL1) has just been updated.
The GeneReviews article for ASXL1-related Bohring-Opitz Syndrome was republished in June 2026, bringing together the latest clinical knowledge, research, and care recommendations into a single, authoritative, trusted, and expert-vetted resource.
For rare disorders like Bohring-Opitz Syndrome, where relatively few individuals have been diagnosed worldwide, resources like GeneReviews play a vital role. They are widely used by geneticists, pediatricians, neurologists, therapists, and other healthcare professionals to guide diagnosis, clinical management, and long-term care. Families also rely on them to better understand the condition and to advocate for appropriate medical care.
The updated review includes new information about the features of Bohring-Opitz Syndrome, recommended clinical surveillance, and management strategies. Importantly, it reinforces recommendations for routine screening for rare childhood cancers, including Wilms tumor and hepatoblastoma. Early surveillance gives families and clinicians the opportunity to detect these cancers as early as possible, when treatment is most effective.
The publication also reflects how much our understanding of Bohring-Opitz Syndrome has grown in recent years. It incorporates new research findings, expands knowledge of the condition across the lifespan, and provides updated recommendations based on the experiences of clinicians and families around the world.
“This updated GeneReviews article provides clinicians with a practical, evidence-based resource that they can use when caring for individuals with Bohring-Opitz Syndrome,” said Dr. Bianca Russell, lead author of the review. “It brings together what we have learned from years of clinical care and research, helping healthcare providers make informed decisions about surveillance, management, and anticipatory guidance for families.”
The ASXL Rare Research Endowment (ARRE) Foundation played a fundamental role in driving this work forward by supporting the collection of natural history data, connecting researchers with families, and helping ensure that lived experiences from the community were reflected in the clinical literature.
The updated GeneReviews article is available free of charge through the National Center for Biotechnology Information (NCBI).