Cowden syndrome


Are there other names for Cowden syndrome?

Cowden syndrome (CS) may be also be referred to as Cowden disease (CD) or multiple hamartoma syndrome. Cowden syndrome was named after the first patient who was described to have this condition.

Cowden syndrome is one of four genetic conditions associated with genetic changes in the PTEN gene. PTEN Hamartoma Tumor syndrome (PHTS) is the term used to describe the group of conditions caused by a genetic change in PTEN. These syndromes include: Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome (PS), and Proteus-like syndrome.

Some people have some of the features of Cowden syndrome, such as the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.

Cowden syndrome. [Internet]. Genetics Home Reference. [Reviewed October 2019 ].Available from:

PTEN Hamartoma Tumor Syndrome. [Internet]. Gene Reviews [updated June 2, 2016]. Available from:

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