A diagnosis of Bohring-Opitz Syndrome (ASXL1) for your loved one likely brings a range of feelings about the future. This rare genetic condition impacts many systems of the body and can cause significant, lifelong challenges. Although there is still much to be learned about Bohring-Opitz Syndrome, the ASXL community of families, doctors, and researchers have learned and continue to learn many lessons about how to best manage symptoms and complications of Bohring-Opitz Syndrome.
How to use this downloadable guide: Although not all of the symptoms discussed in this guide will be present for each person with Bohring-Opitz Syndrome, the various systems highlighted throughout are closely interconnected, so treatment of one symptom may work to improve others.
This guide describes how to help manage some of the most common symptoms of Bohring-Opitz Syndrome, including:
- Head and face, including cleft lip or palate, micrognathia, and retronathia
- Breathing and sleep, including apnea and management of respiratory infections
- Gastrointestinal issues and feeding, including chronic vomiting, cyclic vomiting, aspiration, gastroesophogeal reflux (GERD), and constipation
- Growth, including failure to thrive and posture differences
- Communication and learning, including speech and intellectual disability
- Brain-body connection (neurology), including hypotonia and seizures
- Heart, including bradycardia
- Eyes, including myopia and retinal abnormalities
- Urinary tract, including urinary tract infections (UTI), urinary retention, and kidney stones
- Tumor screening, including Wilms tumor (kidney cancer) and hepatoblastoma (liver cancer)
The information from this guide is derived from the Bohring-Opitz Syndrome GeneReviews article published in February 2018.
Financial support for developing and producing this guide was made possible by the American Legion Child Well-Being Foundation.
Published: July 2024
The information presented here is for educational purposes only. This information is not medical advice and should not be treated as such. You should always talk to your or your family member’s health care professionals for diagnosis and treatment, including information regarding which drugs or treatment may be appropriate for you or your family member. We do not represent or warrant that any particular treatment is safe, appropriate or effective for you or your family member. In the event of a medical emergency, you should contact your doctor immediately or call your local emergency service.
