Knowledge base

What the PMS community knows

Guidelines, experts, research networks and registries — gathered in one place for families and professionals. PMS GO doesn't run studies of its own: we inform about ongoing research and connect the people doing it with the families it is for.

Clinical guidelines For professionals

What you'll find here

Four shelves, growing

Clinical guidelines

The European and North American consensus documents on how PMS should be assessed and managed.

Read about the guidelines

In preparation

Experts & clinics

Clinicians, clinics and research groups with real PMS experience, by country — so families and doctors know who to turn to.

What's coming

In preparation

Research consortia

The networks working on PMS internationally — such as the European PMS research consortium — and how to reach them.

What's coming

Registries & databases

Why connected patient data matters for a rare condition, and how families can take part.

Every family counts

Clinical guidelines

Evidence-based guidance for PMS care

We signpost the consensus guidelines developed by the clinical and research community. Get in touch for the latest references and access.

European guidelines

European consensus on PMS management

Consensus recommendations for the assessment and management of people with Phelan-McDermid Syndrome across the lifespan.

Request references

North American guidelines

North American consensus on PMS management

Consensus guidelines developed within the North American PMS community for practitioners and specialists.

Request references

Clinical guidelines are intended for healthcare professionals and should be applied with clinical judgement. Contact us to be connected with current, peer-reviewed references and the experts behind them.

Experts, clinics & consortia

Who knows PMS — and where to find them

The board is compiling a list of the clinicians, clinics, researchers and research consortia working on Phelan-McDermid Syndrome around the world. It will live here, by country, as soon as it is ready.

Need a name today? Write to us and we'll connect you with the right person through our member associations.

Ask us for an expert Your national association

Experts and clinics with PMS experience — list in preparation

Connected data, worldwide — the engine of discovery

Data & registries

Every family counts — literally

Because PMS is rare and underdiagnosed, connected data is one of the most powerful tools the field has. By helping existing registries and databases collaborate, we make it easier for researchers to see the whole picture — and for families to become part of the answer.

Support and connect existing PMS registries and databases
Reduce underdiagnosis through global awareness
Give families a meaningful way to contribute to progress

We're here for you

Whenever you have questions, we're one message away.

Families, associations, clinicians and researchers — whoever you are, there's a place for you in the Phelan-McDermid community.