How do I know if I have 22q13 deletion / Phelan-McDermid Syndrome?

Phelan-McDermid Syndrome (PMS), also known as 22q13 deletion syndrome, is a rare genetic disorder caused by the deletion or loss of a small piece of genetic material on the long arm of chromosome 22. This syndrome is characterized by a wide range of symptoms that can vary in severity from person to person.

If you suspect that you or someone you know may have 22q13 deletion syndrome, it is important to consult with a healthcare professional for a proper diagnosis. A diagnosis of PMS typically involves a combination of clinical evaluation, genetic testing, and assessment of symptoms.

Here are some signs and symptoms commonly associated with Phelan-McDermid Syndrome:

• Developmental delays: Children with PMS often experience delays in reaching developmental milestones such as sitting, crawling, walking, and talking.


• Intellectual disability: Individuals with PMS may have varying degrees of intellectual disability, ranging from mild to severe.


• Speech and language difficulties: Difficulties with speech and language development are common in individuals with PMS. Some may have limited or no speech.


• Behavioral issues: Behavioral problems such as autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and anxiety may be present in individuals with PMS.


• Low muscle tone: Hypotonia, or low muscle tone, is often observed in individuals with PMS, which can affect motor skills and coordination.


• Distinct facial features: Some individuals with PMS may have certain facial characteristics, including a long face, deep-set eyes, and a pointed chin.


• Seizures: Epilepsy and seizures can occur in individuals with PMS, with varying frequency and severity.

It is important to note that not all individuals with PMS will exhibit all of these symptoms, and the severity can vary widely. Genetic testing, such as chromosomal microarray analysis, can confirm the presence of a 22q13 deletion.

If you suspect that you or your child may have Phelan-McDermid Syndrome, it is crucial to seek medical advice and consult with a genetic specialist or genetic counselor. They can guide you through the diagnostic process and provide appropriate support and resources for managing the condition.

by Diseasemaps