We have just had a diagnosis
First steps, benefits, EHCPs and who to talk to. One step at a time.
Support for families living with Phelan-McDermid Syndrome
We are a UK charity for anyone who has, or knows someone with, Phelan-McDermid Syndrome (PMS). We bring families together, share clear information and offer practical help across the UK and Ireland.
What is Phelan-McDermid Syndrome?
Phelan-McDermid Syndrome (PMS) is caused by a deletion, or loss, of the end section of chromosome 22. It is also known as chromosome 22q13.3 deletion.
People with PMS have developmental delay. Many do not develop functional speech, and many are autistic. Everyone with PMS finds communication difficult, and most have low muscle tone. Symptoms vary a great deal from person to person, but everyone diagnosed with PMS needs extra care in their daily life.
- Over 400 families affected by PMS in the UK and Ireland
- Almost 5,000 people registered with PMS worldwide
- Almost 300 awards given to children with PMS
Where would you like to start?
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Something has changed
If you are worried about a change in behaviour or a loss of skills, including catatonia, here is where to get the right help.
Talk to a family near you
Our regional reps are close to someone with PMS themselves, and welcome every new family.
How we help
PMSF UK is a supportive, inclusive community. Support matters when you are caring for someone with the syndrome, and no family should have to work it all out alone.
Family Days
Days out and regional get-togethers where families, siblings and researchers meet.
Awards for families
Help towards therapies, equipment, activities, sibling support and carers' breaks.
Family stories
Parents and carers share what life with PMS is like, and what has helped.
Useful links
Charities and services that help with equipment, health, education and benefits.
Latest news
UK families at the CureSHANK symposium in Barcelona
Five UK families and four professionals spent four days in Barcelona hearing about gene therapy, repurposed medicines and clinical trials.
Over 300 people at our Family Day in North London
Nearly 60 families from across the UK and Ireland joined us for research updates, sport, Lego and a shared lunch.
Sean completes a tandem skydive for Willow
Sean Farrell jumped from 15,000 feet over Salisbury and raised £2,500 for PMSF UK.
Coming up
Rare Disease Day 2027
A worldwide day for the more than 300 million people living with a rare disease.
PMSF UK & Ireland Family Day 2027
Our next nationwide Family Day. Date and place to be announced.
Help us support more families
We are a small charity run by families and volunteers. Every donation, every T-shirt and every fundraiser helps us run Family Days, give awards and support research.
Part of a worldwide community
PMSF UK is a global partner of the Phelan-McDermid Syndrome Foundation (PMSF), which has members in more than 60 countries. We are also a founding member of PMS GO, the Phelan-McDermid Syndrome Global Organization.
