What are the cancer risks for PHTS patients?

You can find information on cancer risks for PHTS patients on our Screening Guidelines page with further information being available on our On Diagnosis page and in our PTEN Overview Video. With PHTS being such a rare disease and there being only a small amount of data available currently, there are differences in opinion on the […]

What are the common symptoms of PHTS?

PHTS has a broad spectrum of issues and severity. Common symptoms of PHTS are described in detail on our On Diagnosis page, but include things such as a large head (macrocephaly), developmental delay (both physical and mental), autism and potentially cancers usually in later life.    

How do I get in contact with a genetics counsellor?

Please ask for a referral from your GP, or if you are already in contact with a Genetics department or counsellor, you may be able to contact them directly. This can be done at anytime, whether on diagnosis or a long time after diagnosis. From our Useful Resources page, you can get information such as – […]

What do I do if I am newly diagnosed with PHTS?

If you are newly diagnosed with PHTS, we’d recommend checking out the following resources on our website – – the New to PHTS page: http://ptenuki.org/patients/new-to-phts/, – the On Diagnosis page: http://ptenuki.org/patients/on-diagnosis/, and – the PTEN Overview Video by Dr Katherine Lachlan: https://ptenuki.org/pten-overview-video/ We would also recommend joining our private Facebook group which is where most […]