A diagnosis of Bainbridge-Ropers Syndrome (ASXL3) 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 Bainbridge-Ropers 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 Bainbridge-Ropers Syndrome.
How to use this guide: Although not all of the symptoms discussed in this guide will be present for each person with Bainbridge-Ropers 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 in Bainbridge-Ropers Syndrome, including:
- Communication and learning, including delayed speech and language development and intellectual development delays
- Brain-body connection (neurology), including hypotonia, hypermobility, and seizures
- Behavior, including autism spectrum disorder, aggressive behavior, self-injury, and other behavior concerns
- Sleep and breathing, including sleep apnea and irregular breathing patterns
- Gastrointestinal issues and feeding issues, including difficulty feeding and swallowing, high arched palate, gastroesophogeal reflux (GERD)
- Dental abnormalities, including high arched palate and teeth alignment
- Eyes and vision, including strabismus and poor vision
- Growth, including overgrowth (macrosomia and macrocephaly)
The information from this guide is derived from the Bainbridge-Ropers Syndrome (ASXL3-related disorder) GeneReviews article published in November 2020.
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.
