PHTS has a broad range of symptoms and medical conditions as part of it, which can be apparent from childhood or not manifest until adult life. As a result of this, the diagnosis might be recognised and made by medical professional from many different disciplines.
The medical professionals appropriately involved in an affected person’s care will be different for different people and at different ages. The people involved in care might include a clinical geneticist, speciality physicians in the areas of high-risk breast care, endocrinology, gynaecology-oncology, dermatology, and gastroenterology.
If a child is affected by PHTS, a developmental or community paediatrician may be involved alongside other specialists who might include a paediatric neurologist, paediatric gastroenterologist as well as other health professionals to support development, for example speech therapist, physiotherapist and occupational therapist.
Please see below for links with further information about PHTS.
The British Society of Genetic Medicine
In the UK, all clinical genetics services will be able to offer testing, if appropriate and advice and medical care and screening. Your GP can refer you to your closest centre.
The Cleveland Clinic
Overview of PHTS and related syndromes, published by the Cleveland Clinic, Ohio, USA
The Developmental Synaptopathies Consortium
A consortium of 10 US medical centres studying 3 rare genetic syndromes of which PHTS is one.
European Patient Advocacy Group (ePAG)
Patient organisations can participate in the ERN GENTURIS decision-making processes to ensure that the patient voice is heard throughout the ERN GENTURIS development process.
Cowden syndrome background information
PHTS professionals network
A link to a directory of clinicians, researchers and medical support teams we are aware of with specific expertise in PHTS around the globe.
News items for patients
See our news section for the latest updates. Click for patients on the right hand side for specifically tagged articles.