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.
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!