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ASXL syndromes
Newly diagnosed
Syndrome overview
Bohring-Opitz Syndrome (ASXL1)
Shashi-Pena Syndrome (ASXL2)
Bainbridge-Ropers Syndrome (ASXL3)
ASXL Resource Library
ASXL Care Directory
ASXL clinics
Research
Enroll in research
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ASXL syndromes
Newly diagnosed
Syndrome overview
Bohring-Opitz Syndrome (ASXL1)
Shashi-Pena Syndrome (ASXL2)
Bainbridge-Ropers Syndrome (ASXL3)
ASXL Resource Library
ASXL Care Directory
ASXL clinics
Research
Enroll in research
Published research
ASXL Patient Registry
Research we fund
Research Roadmap
Events
ASXL Research Symposium and Family Conference
Webinars and events
Get involved
Ways to give
Volunteer
Fundraise
Giving Tuesday
Awareness days
About us
Who we are
Leadership
Annual report
Partners
News
Join our team
Undiagnosed?
Shop
Donate
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Folder: ASXL syndromes
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Newly diagnosed
Syndrome overview
Bohring-Opitz Syndrome (ASXL1)
Shashi-Pena Syndrome (ASXL2)
Bainbridge-Ropers Syndrome (ASXL3)
ASXL Resource Library
ASXL Care Directory
ASXL clinics
Back
Enroll in research
Published research
ASXL Patient Registry
Research we fund
Research Roadmap
Back
ASXL Research Symposium and Family Conference
Webinars and events
Back
Ways to give
Volunteer
Fundraise
Giving Tuesday
Awareness days
Back
Who we are
Leadership
Annual report
Partners
News
Join our team


ABOUT ASXL2/SHASHI-PENA SYNDROME (SPS)


OVERVIEW

About

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

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)

 * Low muscle tone (hypotonia)

 * Developmental delay

 * Difficulty controlling blood sugar

 * Constipation

 * Orthopedic complications

 * Heart defects

 * Behavioral and sensory challenges

 * Seizures

Read more about symptoms and features

Published symptoms and clinical features

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. The intent of this document is to help you and
your loved one’s doctors know what signs and symptoms to watch for.

View larger image

Prevalence

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
40-45 people diagnosed in the world.

Diagnosis

Gene sequencing is required to confirm a diagnosis of Shashi-Pena Syndrome.

Life expectancy

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.

Care management

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:

 * ASXL Care Directory

 * ASXL resource library

 * ASXL clinical specialists

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

 * participate in the registry and biobank and

 * raise funds to support our work.

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:

 * NORD Rare Disease Database: Shashi-Pena Syndrome

 * American Journal of Human Genetics: De novo truncating variants in ASXL2 are
   associated with a unique and recognizable clinical phenotype


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.


NEWLY DIAGNOSED

Has someone you love just been diagnosed with an ASXL-related disorder?

Learn more



ASXL RARE RESEARCH ENDOWMENT FOUNDATION

P.O. Box 4662
Portland, ME 04112 U.S.A.
info@arrefoundation.org



The ASXL Rare Research Endowment Foundation is recognized in the United States
as a 501(c)3 nonprofit organization. Donations are tax deductible to the fullest
extent of the law. Tax ID: 82-3890665

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