Cowden syndrome

Also known as

  • Multiple Hamartoma Syndrome

Patients tend to have a large head that is longer than wide. Autism and developmental delays have been observed at an increased frequency in patients with Cowden syndrome.

Condition details

Cowden syndrome is a causes both benign and cancerous growths which commonly affect the breasts, uterus, thyroid, gastrointestinal tract, skin, and oral mucosa (tongue and gums). Women with Cowden syndrome can develop benign growths in their breasts and benign fibroid tumours of the uterus. Patients will often have dark flat spots on their hands and feet whilst men can develop freckles on their penis. Patients are also at an increased risk of developing a benign tumour on their cerebellum. Patients will be cared for by a a team of doctors who will monitor them closely for any appearance of growths.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult


Affected genes identified to date

  • PTEN

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

How many are affected?

1 in 250,000

Support groups and organisations

No groups found

Known experts

No experts found

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