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 with minor facial dysmorphisms, such as thin and brittle toenails; large, fleshy hands; large feet; prominent and poorly formed ears; and other features not evident on visual examination, such as hypotonia; normal or accelerated growth; high pain tolerance; seizures; strabismus; spinal cord abnormalities; and poor central vision.
In addition to the inability to speak and develop learning, 80% suffers from autism, along with hypotonia, kidney and cardiovascular problems, and lack of motor skills. This disorder has no cure, and only palliative care is available for the symptoms. Therapies for autism often work by establishing communication through photographs, pictograms, and gestures, creating their own language.
“They want to relate but they can’t”
In Spain, there are only 55 cases, and information about the syndrome is scarce, and families are left alone. It was created for this purpose. the Phelan-McDermid Syndrome Association, to connect all these families and support research projects on the disease from Spain, creating a joint Spain-US line of work.
Cristina Oroz Bajo
Sources and links of interest:
Phelan-McDermid Syndrome www.22q13.org.es/
Conference 2018 – 22q13.org.es – Phelan-McDermid Syndrome www.22q13.org.es/conferencia-2018/