#RareDisease close-up: Phelan-McDermid Syndrome

phelan mcdermid syndrome rare disease Phelan-McDermid Syndrome is caused by the absence / loss of genes at the tip of the 22nd chromosome. This gene plays a pivotal role in development of the human nervous system, including the brain, and loss of this genetic component prevents proper nervous system construction during fetal development.

The Phelan-McDermid Syndrome Foundation provided this fact sheet on this rare disorder.

Download the fact sheet here.

Do you want answers to the following questions:

  • What is Phelan-McDermid Syndrome?
  • What are the distinct characteristics of the Syndrome?
  • How is the Phelan-McDermid Syndrome diagnosed? 
  • How rare is this Syndrome?
  • What is being done to help those diagnosed with Phelan-McDermid Syndrome?

…then you need to download the fact sheet now!

The Phelan-McDermid Syndrome Foundation will be attending the World Orphan Drug Congress USA this April. Register now to meet with them and other leading rare disease patient groups.