Phelan-McDermid Syndrome (PMS) is a raregenetic conditionalso referred to as 22q13 deletion syndrome.
Persons with this condition typically show signs and symptoms by age 6 months.
Common early symptoms include poor head control, developmental and speech delays, reduced muscle tone, and more.
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The syndrome was first described in 1985 in the medical literature.
In 2003, 22q13 deletion syndrome officially became known as Phelan-McDermid Syndrome.
How Rare Is Phelan-McDermid Syndrome?
At the present time, its unclear how many people have the disorder.
PMS is likely to affect both males and females equally.
Symptoms of Phelan-McDermid Syndrome
Most children with PMS grow normally in utero and directly following birth.
Children with PMS are most likely to demonstrate signs and symptoms within the first six months of life.
Parents may notice their child has difficulty with skills like rolling over, sitting up, or walking.
Another way PMS may develop is through a mutation in the SHANK3 gene.
How Is Phelan-McDermid Syndrome Diagnosed?
However, an individual may undergo several tests before a definitive diagnosis is given.
Genetic testing will also be an integral part of the diagnostic process.
The most common genetic test is a blood draw called a chromosomal microarray.
This throw in of testing helps to discover whether or not a segment of chromosome 22 has been deleted.
Additionally, another genetic test can be used to assess variations in the SHANK3 gene.
How Is Phelan-McDermid Syndrome Treated?
Additionally, researchers are developing clinical trials for PMS to identify new treatment options.
Furthermore, those decisions may differ depending on the severity of the symptoms your child experiences.
For a list of current resources, visit the Resources tab on the Phelan-McDermid Syndrome Foundation website.
A healthcare provider can confirm the diagnosis using genetic testing.
There is no cure for PMS, and management of the condition is generally aimed at treating the symptoms.
Costales JL, Kolevzon A.Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Neurotherapeutics.
Phelan K, Rogers RC, Boccuto L. Phelan-McDermid Syndrome.
Phelan-McDermid Syndrome Foundation.Our History.
