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Cowden Syndrome

0 意见 • 06/29/23
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The Cowden Syndrome association aims to raise awareness, inform and help the public as well as people and their relatives affected by this syndrome.
Cowden Syndrome is a rare orphan genetic disease.
The diagnosis is made after a genetic analysis with a blood test and the discovery of a mutation in the Pten gene.
It is characterized by the presence of hamartomas (benign - non-cancerous tumors) forming on and under the skin, chest, thyroid, gastrointestinal system, endometrium and brain.
It is characterized by the presence of hamartomas (benign - non-cancerous tumors) forming on and under the skin, chest, thyroid, gastrointestinal system, endometrium and brain.
Psychomotor development problems can be found in those affected.
A significant number of families are affected by the autism spectrum disorder
A follow-up is set up when the diagnosis is made.
A good follow-up keeps the syndrome under control and thus allows rapid action in the event of cancer.
Doctors have told us that many people are affected without knowing it.
The vital risk is much higher for them.

syndromecowden@gmail.com

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