Phelan-McDermid Syndrome (deletion of chromosome 22q13) is a genetic condition considered a rare disease caused in most cases by the loss of genetic material from the terminal end of chromosome 22.

Almost all affected children have cognitive disabilities with moderate to severe effects on learning and language. They present minor facial dysmorphisms, such as thin and brittle toenails; large, fleshy hands; Big feet; ears prominent and not very well formed; and other characteristics that are not evident on visual examination such as hypotonia; normal or accelerated growth; high pain tolerance; convulsions; squint; spinal cord abnormalities and poor central vision.

Added to the impossibility of speaking and progressing in learning is the autism that 80% of them suffer from, in addition to hypotonia, kidney and cardiovascular problems or lack of motor skills. This disease has no cure and there is only palliative care for the symptoms. Therapies from the autistic world usually work to establish communications with photographs, pictograms and gestures, creating their own language. “They want to relate but they can't”

In Spain there are only 55 cases and the information available about the syndrome is very scarce and the families are very alone. For this purpose , the Phelan-McDermid Syndrome Association has been created to put all these families in contact and support research projects on the disease from Spain, creating a joint Spain-USA line of work.

Cristina Oroz Bajo Sources and links of interest: Phelan-McDermid syndromewww.22q13.org.es/ 22q13 deletion syndrome – Wikipedia, the free encyclopediahttps://es.wikipedia.org/wiki/Syndrome_deleción_22q13 https://www.cuatro.com/noticias/sociedad/sindrome-Phelan-McDermid-dolencia-casos-Espana_0_1592850029.html Conference 2018 – 22q13.org.es – Phelan-McDermid Syndromewww.22q13.org.es/conference-2018/