About ASXL2/Shashi-Pena Syndrome (SPS)
Overview
About Shashi-Pena Syndrome
2-minute overview of Shashi-Pena Syndrome
Shashi-Pena Syndrome is typically caused by a de novo (new) mutation of the ASXL2 gene. The mutation happens randomly and is not usually inherited from parents.
Read more about what causes ASXL-related disorders
The syndrome was identified in 2016 through the Undiagnosed Diseases Network. It is named after Vandana Shashi and Loren Peña, two doctors who described similarities in six children who had a change in their ASXL2 gene.
Clinical characteristics of Shashi-Pena Syndrome
There is variability in the severity of symptoms of people who have Shashi-Pena Syndrome and we don’t yet have a good understanding of why that is.
Some of the most common characteristics include:
Distinct facial features (large head, wide-set eyes, low set ears, birthmarks)
Dental abnormalities (early tooth eruption and loss; fragile teeth)
Low muscle tone (hypotonia)
Developmental delay
Feeding difficulties that may improve with age
Difficulty controlling blood sugar
Constipation
Skeletal anomalies
Heart defects
Behavioral and sensory challenges
Seizures
Sleep apnea (obstructive or mixed central/obstructive)
New reference text on Shashi-Pena Syndrome
A Shashi-Pena Syndrome chapter was published in the clinical reference guide GeneReviews in November 2024. This is the first comprehensive study of Shashi-Pena Syndrome since 2016 and includes new clinical findings, including dental abnormalities, hearing loss, and bone fragility. This publication also offers new recommendations for clinical management, including suggested clinical evaluations and treatments.
Published symptoms and clinical features of Shashi-Pena Syndrome
The ARRE Foundation cataloged a list of all the symptoms reported in the medical literature about individuals with ASXL2/Shashi-Pena Syndrome. This map of symptoms across health domains is available in a downloadable PDF and is a helpful document to share with your loved one’s doctors.
It’s important to note that all the symptoms listed here are not present in every individual with Shashi-Pena Syndrome. This is a wide range of symptoms reported across 14 individuals as of October 2023. The intent of this document is to help you and your loved one’s doctors know what signs and symptoms to watch for.
Prevalence of Shashi-Pena Syndrome
We don’t know how many people have an accurate diagnosis, but Shashi-Pena Syndrome appears to be incredibly rare. We estimate that there are approximately 50-55 people diagnosed in the world.
Diagnosis of Shashi-Pena Syndrome
Gene sequencing is required to confirm a diagnosis of Shashi-Pena Syndrome.
Life expectancy of Shashi-Pena Syndrome
Based on the small number of individuals who have been identified, Shashi-Pena Syndrome is not believed to be a life-limiting disorder.
Experts Loren Peña, MD, PhD (Cincinnati Children's Hospital) and Vandana Shashi, MD (Duke University) provide an overview of Shashi-Pena Syndrome and answer some of the most commonly asked questions from families.
Caring for someone with Shashi-Pena Syndrome
There are no ASXL-specific therapeutics or treatments to address the underlying cause of Shashi-Pena Syndrome. The treatment approach typically includes the management of complications through a multidisciplinary team of medical specialists and therapists (speech therapy, physical therapy, occupational therapy, etc.).
Care management resources:
Shashi-Pena Syndrome GeneReviews chapter (see the Management section)
Research
There has been limited research on Shashi-Pena Syndrome and the other two ASXL syndromes (ASXL1/Bohring-Opitz Syndrome and ASXL3/Bainbridge-Ropers Syndrome). It’s our mission to change that. We’re funding research grants and we support the ASXL Patient Registry and Biobank.
The two best things you can do to advance research into SPS are
Continued reading
The following resources have been approved by our Medical and Scientific Advisors as relevant reading for families looking to learn more about Shashi-Pena Syndrome:
Family support
Parent support group (Facebook page)
Two parents, Teresa Locklear and Dawn Machenheimer, created the Shashi-Pena Syndrome (ASXL2) Families support group as a private Facebook page in 2018. There are currently about 50 members from around the world in the group.
Families sharing their journey
Sarah Scott, mom to Sammy, documents his journey with Shashi-Pena Syndrome on the SuperSammy Facebook page.
Newly diagnosed
Has someone you love just been diagnosed with an ASXL-related disorder?
