Proteus Syndrome Foundation
Welcome to the Proteus Syndrome Foundation (PSF). We’re a community of families, caregivers, clinicians, and researchers united by a single purpose: ensuring no one faces Proteus syndrome alone. Our work brings people together, drives progress, and provides real support at every stage of the journey.
Through our family conferences, our PSF camp retreat, and medical assistance programs, we create spaces where families can connect, learn, and lean on one another. Proteus syndrome can feel overwhelming and isolating — but with the PSF behind you, you will always have a place to turn, people who understand, and a network committed to moving care and research forward.
You’re welcome here. Let’s move forward together.
Through our family conferences, our PSF camp retreat, and medical assistance programs, we create spaces where families can connect, learn, and lean on one another. Proteus syndrome can feel overwhelming and isolating — but with the PSF behind you, you will always have a place to turn, people who understand, and a network committed to moving care and research forward.
You’re welcome here. Let’s move forward together.
What is Proteus Syndrome?
Proteus syndrome is a rare condition that causes unusual, uneven growth of bones, skin, and other tissues. It’s the result of a specific mutation in the AKT1 gene — a gene that plays a major role in controlling how cells grow. Once researchers identified this mutation as the cause, genetic testing became an important tool for confirming a diagnosis.
Today, genetic testing helps doctors and families get clear answers. It ensures people are accurately diagnosed and properly managed, which can make a tremendous difference in care.
If you believe you or your child may have Proteus syndrome, please reach out to the PSF. We’ll guide you step-by-step through the process of getting answers and finding support.
Today, genetic testing helps doctors and families get clear answers. It ensures people are accurately diagnosed and properly managed, which can make a tremendous difference in care.
If you believe you or your child may have Proteus syndrome, please reach out to the PSF. We’ll guide you step-by-step through the process of getting answers and finding support.
NEWLY DIAGNOSED? Follow this link to help you and your medical team understand Proteus syndrome.
Patient RegistryThe Proteus Syndrome Foundation Contact Registry will be used to inform individuals with Proteus syndrome and their guardians about:
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Proteus Syndrome Foundation - 9296 Penobscot Ct., Colorado Springs, CO. 80924 USA
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