“What is Shashi-Pena Syndrome?” This short video helps answer that question. Copy the video link to share this video for Shashi-Pena Syndrome Awareness Day on October 6, fundraisers, or with others who should know what Shashi-Pena Syndrome is.
Shashi-Pena Syndrome is an ultra-rare neurodevelopmental disorder caused by a change, or mutation, in the ASXL2 gene. There are an estimated 40-45 individuals diagnosed with Shashi-Pena Syndrome globally. Common features of Shashi-Pena Syndrome include distinct facial features (large head, wide-set eyes, birthmarks), low muscle tone (hypotonia) developmental delay, difficulty controlling blood sugar, orthopedic complications (bone density, advanced bone age, scoliosis), heart defects, behavioral and sensory challenges, constipation, and seizures. There are no treatments to address the underlying cause of Shashi-Pena Syndrome. Treatment includes managing individual symptoms.
Published: September 2022
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.
