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.

External resources


Internal resources