Marbach-Schaaf Neurodevelopmental Syndrome Foundation

Marbach-Schaaf Neurodevelopmental Syndrome Foundation Advancing research and supporting families affected by MASNS. Visit our website to learn more + donate! masnsfoundation.org

About

The Marbach-Schaaf Neurodevelopmental Syndrome Foundation is a nonprofit organization dedicated to raising awareness, supporting families, and advancing research for Marbach-Schaaf Neurodevelopmental Syndrome (MASNS). MASNS is a rare genetic condition caused by variants in the PRKAR1B gene. Individuals with MASNS may experience autism, developmental delays, intellectual disability, and othe

r neurological differences. Because the condition is so rare, many families face long diagnostic journeys and limited resources. Our foundation exists to help build a supportive community for affected families while working to expand scientific understanding of MASNS. Our Mission

Our mission is to raise awareness, support families, and advance research to improve understanding and outcomes for individuals living with Marbach-Schaaf Neurodevelopmental Syndrome. Our Goals

• Increase awareness and education about MASNS
• Connect and support families affected by the condition
• Promote collaboration among researchers, clinicians, and the rare disease community
• Help accelerate research into the PRKAR1B gene and MASNS pathophysiology

What Donations Support

Donations to the foundation will be used to:

• Fund foundational research to better understand and treat MASNS
• Support the inaugural MASNS Scientific, Medical, and Family Conference
• Advance public awareness of MASNS through outreach and educational initiatives

Learn more about MASNS and our work at:
https://masnsfoundation.org/

April is Autism Acceptance Month. As the MASNS Foundation, this month holds special meaning for us.We often get asked: w...
04/01/2026

April is Autism Acceptance Month. As the MASNS Foundation, this month holds special meaning for us.

We often get asked: what is MASNS, and how does it relate to autism? Here’s what we want everyone to know:

Autism is not one condition with one cause. More than 800 genes and dozens of genetic syndromes have been linked to autism spectrum disorder, and approximately 1 in 5 children with an ASD diagnosis has an identifiable genetic syndrome behind it.

Marbach-Schaaf Neurodevelopmental Syndrome is one of those conditions. For many of our individuals, MASNS doesn’t exist alongside an autism diagnosis, it IS the reason for it.

Our families navigate the same therapies, the same school systems, the same joys and the same challenges that so many autism families know well. We are part of this community, and this month, we stand proudly alongside it.

To every autistic individual: you are valued, you are celebrated, and you belong. To every family in the trenches, whether your child has an autism diagnosis, a rare genetic condition, or both, we see you. We know the weight of it, and we know the beauty of it too. You are not alone.

This month, as awareness and acceptance take center stage, we’re also shining a light on the fact that behind the broader autism umbrella are countless rare genetic conditions, each with their own families fighting for answers, research, and support. The MASNS Foundation exists to push that research forward. So that one day, families get answers faster, and every child gets the support they deserve from day one.

Happy Autism Acceptance Month. 💙🌈

MASNS is diagnosed through genetic testing that identifies changes in the PRKAR1B gene.As genetic testing becomes more w...
03/24/2026

MASNS is diagnosed through genetic testing that identifies changes in the PRKAR1B gene.

As genetic testing becomes more widely available, more individuals with MASNS may be identified and correctly diagnosed.

Earlier diagnosis can help families access appropriate care, resources, and research opportunities.

Our second MASNS family Zoom is happening this Saturday! 🧠🌈If you’re a family touched by a MASNS diagnosis and want to c...
03/19/2026

Our second MASNS family Zoom is happening this Saturday! 🧠🌈

If you’re a family touched by a MASNS diagnosis and want to connect with others who get it, this one’s for you. 💛

These calls are a safe, supportive space to share experiences, ask questions, and remind each other that you’re not alone on this journey.

Interested in joining? Send us a DM and we’ll get you the details! 📩

MASNS can affect individuals in different ways, but there are some features that are commonly seen among those who have ...
03/17/2026

MASNS can affect individuals in different ways, but there are some features that are commonly seen among those who have been diagnosed.

Because MASNS is ultra-rare and only recently identified, our understanding of the condition continues to evolve as more individuals are diagnosed.

Learn more about MASNS:
https://masnsfoundation.org/about_masns/

Two girls. One ultra-rare condition. One very special meeting.Silvia and Adele, both diagnosed with Marbach-Schaaf Neuro...
03/12/2026

Two girls. One ultra-rare condition. One very special meeting.

Silvia and Adele, both diagnosed with Marbach-Schaaf Neurodevelopmental Syndrome (MASNS), recently met for the first time.

With fewer than 100 known individuals worldwide, opportunities for families to meet others with the same diagnosis are incredibly rare.

A huge thank you to their families for sharing this beautiful moment with our community. This is what connection looks like 💙

Marbach-Schaaf Neurodevelopmental Syndrome (MASNS) is an ultra-rare genetic condition caused by changes in the PRKAR1B g...
03/10/2026

Marbach-Schaaf Neurodevelopmental Syndrome (MASNS) is an ultra-rare genetic condition caused by changes in the PRKAR1B gene.

Fewer than 100 individuals worldwide have currently been identified. Because MASNS was only discovered relatively recently, many individuals may still be undiagnosed or misdiagnosed.

Raising awareness helps more families find answers and helps drive research forward.

Learn more about MASNS:
https://masnsfoundation.org/about_masns/

Marbach-Schaaf Neurodevelopmental Syndrome (MASNS) is caused by changes in the PRKAR1B gene, which plays an important ro...
03/10/2026

Marbach-Schaaf Neurodevelopmental Syndrome (MASNS) is caused by changes in the PRKAR1B gene, which plays an important role in brain development and signaling.

These genetic changes can occur de novo (new in the child) or be inherited from a parent.

MASNS is associated with autism, developmental delays, intellectual disability, and other neurological differences.

Learn more about MASNS:
https://masnsfoundation.org/about_masns/

Our mission is to raise awareness, support families, and advance research for Marbach-Schaaf Neurodevelopmental Syndrome...
03/03/2026

Our mission is to raise awareness, support families, and advance research for Marbach-Schaaf Neurodevelopmental Syndrome (MASNS).

Because MASNS is a rare genetic condition, many families face long diagnostic journeys and limited resources. The MASNS Foundation exists to help build community, increase awareness, and support research that will improve understanding and outcomes for individuals with MASNS.

What is Marbach-Schaaf Neurodevelopmental Syndrome (MASNS)?MASNS is a rare genetic condition that affects brain developm...
03/03/2026

What is Marbach-Schaaf Neurodevelopmental Syndrome (MASNS)?

MASNS is a rare genetic condition that affects brain development. Many individuals with MASNS experience autism, developmental delays, and other neurological differences.

MASNS is caused by changes (variants) in the PRKAR1B gene, which plays an important role in brain signaling and development.

Because MASNS is so rare, many families spend years searching for answers and support.

The Marbach-Schaaf Neurodevelopmental Syndrome Foundation was created to raise awareness, support families, and advance research to better understand this condition.

03/02/2026

Welcome to the official page for the Marbach-Schaaf Neurodevelopmental Syndrome Foundation 💙

Marbach-Schaaf Neurodevelopmental Syndrome (MASNS) is an ultra-rare genetic condition that can cause autism, developmental delays, and other medical challenges. Because it is so rare, many families spend years searching for answers and support.

Our mission is to:
• Raise awareness of MASNS
• Support affected children and their families
• Advance research that will improve diagnosis, treatment, and quality of life

This page will share updates about research, family stories, resources, and ways to support the MASNS community.

Thank you for being here and helping us spread awareness.

Address

1406 N. Broadway
St. Louis, MO
63102

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