The ARRE Foundation cataloged a list of all the symptoms reported in the medical literature about individuals with Shashi-Pena Syndrome (ASXL2) as of October 2023. This chart of symptoms across health domains is available in a downloadable PDF and may be a helpful document to share with your loved one’s doctors and other healthcare providers.
It’s important to note that all the symptoms listed here are not present in every individual. This is a wide range of symptoms reported across multiple individuals who have varying severity of their condition. The intent of this document is to help you and your loved one’s doctors know what signs and symptoms to watch for.
This chart summarizing symptoms and clinical features from 14 individuals with Shashi-Pena Syndrome reported in research papers as of October 2023. Symptoms are grouped into the following categories:
- Communication
- Behavior/Emotional
- Sleep
- Neurological
- Visual
- Gastrointestinal and feeding
- Cognition
- Cardio-pulmonary
- Musculoskeletal
- Motor
- Skin/Hair
- Other, including hearing loss, endocrine dysfunction, dysautonomia, and growth
Published: October 2023
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.
