Phelim mcdermott disease process

Phelan-McDermid syndrome is a rare genetic condition impacting speech, mobility, and cognitive development.

Phelan-McDermid Syndrome | Boston Children's Hospital

It typically occurs due to an alteration in chromosome 22 and is present from birth.

It can be difficult to diagnose Phelan-McDermid syndrome (PMS) due to the variety of potential symptoms it can cause.

The diagnostic process will usually involve a child demonstrating suggestive symptoms and genetic tests confirming a gene alteration.

Management of symptoms often requires a diverse team of specialists, and an individual will typically require lifelong assistance.

When discussing Phelan-McDermid syndrome, it is worth noting not to confuse the term PMS with premenstrual syndrome, which is a more familiar condition with the same abbreviation.

This article discusses PMS, including its possible symptoms, potential causes, and life expectancy.

PMS describes a rare genetic condition that may cause developmental and sp Phelan-McDermid Syndrome - Symptoms, Causes, Treatment | NORD VENO