A diagnosis of Shashi-Pena Syndrome (ASXL2) 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 Shashi-Pena 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 Shashi-Pena Syndrome.
How to use this guide: Although not all of the symptoms discussed in this guide will be present for each person with Shashi-Pena 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 Shashi-Pena Syndrome, including:
- Growth, including overgrowth (macrosomia and macrocephaly)
- Skeletal abnormalities, including scoliosis, kyphosis, fractures, and hypermobility
- Gastrointestinal issues and feeding, including difficulty feeding and swallowing
- Breathing and sleep, including apnea
- Behavior and learning, including intellectual development delays, difficulties with attention, and aggressive behavior
- Brain-body connection (neurology), including hypotonia and seizures (febrile and non-febrile)
- Endocrine system, including hypoglycemia and hyperinsulinism
- Heart, including atrial septal defects and patent ductus arteriosus
- Dental abnormalities, including early eruption and loss of teeth and overgrowth of gum tissue
- Eyes and vision, including strabismus and poor visual development
- Ears and hearing, including conductive hearing loss
The information from this guide is derived from the Shashi-Pena Syndrome GeneReviews article published in November 2024.
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.
