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My Niece Ruby has Phelan-McDermid Syndrome. Phelan-McDermid Syndrome (PMS) is caused by a deletion, or loss, of the terminal segment of chromosome 22. 

There are over 300 families who are diagnosed with PMS in the UK & Ireland, and almost 3000 registered worldwide. All people with PMS have difficulty communicating; many are non-verbal, have issues around cognitive development and mobility and most have low tone in their limbs. All people diagnosed with PMS need additional care to support their daily lives.

The Phelan-McDermid Syndrome Foundation UK (PMSF UK) is a registered charity in the United Kingdom. PMSF UK is about providing a supportive inclusive community for those who have or know someone with Phelan-McDermid Syndrome (PMS).