Welcome - Pitt Hopkins syndrome (PTHS) Community

What is Pitt Hopkins syndrome (PTHS) ?

Pitt Hopkins Syndrome is a genetic disorder characterised by learning disabilities and developmental delay from moderate to severe, unusual breathing episodes,(apnoea and hyperventilation), epilepsy and distinct facial features. Some people with PTHS do not have seizures or any breathing problems. Many people with PTHS do not talk but most will learn to walk eventually.

Source: Patient groups listed below

Pitt Hopkins syndrome (PTHS) Resources

More members stories

Latest Member Stories

Our son

by irenepereira published 6 months ago
One comment

Hello! I am Mateo's mum. He is 5, and it's been almost 3 years now that we know that our son has the pitt Hopkins syndrome and lacks 18 genes more ...


by paolaandreaalegria published 7 months ago

Hello, my son has Pitt Hopkins syndrome like type 2 syndrome. I want to know everything about this disease because he is very self-injuring. He is ...

Partners and Patient Groups

RareConnect is a patient-led initiative. Patient organisations partner with EURORDIS, itself an international patient organisation, to create communities and provide moderators from within their network. The following patient groups are official partners of this community.