At this time, there is no cure for Phelan-McDermid Syndrome. However, there are medications and therapies that can help manage the symptoms. These include medications to help with sleep, behavior, and seizures, as well as physical, occupational, and speech therapies.

1. Deletion of the terminal end of chromosome 22 (22q13.3 deletion)
2. Maternal uniparental disomy (UPD) of chromosome 22
3. Rare point mutations in the SHANK3 gene
4. Rare chromosomal rearrangements involving the SHANK3 gene
5. Rare inherited mutations in the SHANK3 gene
6. Rare inherited mutations in other genes that can cause similar clinical features

The treatments for Phelan-McDermid Syndrome vary depending on the individual and the severity of the symptoms. Generally, treatments focus on managing the symptoms and helping the individual reach their full potential. These treatments may include:

1. Speech and language therapy: Speech and language therapy can help individuals with Phelan-McDermid Syndrome improve their communication skills.

2. Occupational therapy: Occupational therapy can help individuals with Phelan-McDermid Syndrome develop skills that will help them become more independent.

3. Physical therapy: Physical therapy can help individuals with Phelan-McDermid Syndrome improve their motor skills and coordination.

4. Behavioral therapy: Behavioral therapy can help individuals with Phelan-McDermid Syndrome learn how to manage their behavior and emotions.

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Phelan-McDermid Syndrome is caused by a deletion or mutation of the SHANK3 gene. This gene is responsible for the production of a protein that is essential for normal brain development. The deletion or mutation of this gene can lead to a wide range of physical, cognitive, and behavioral symptoms.

The most common symptoms of Phelan-McDermid Syndrome (PMS) include:

-Delayed or absent speech
-Intellectual disability
-Developmental delays
-Gross and fine motor delays
-Seizures
-Sleep disturbances
-Behavioral issues
-Sensory processing issues
-Gastrointestinal issues
-Growth delays
-Hypotonia (low muscle tone)
-Feeding difficulties
-Autism spectrum disorder (ASD)

Phelan-McDermid Syndrome (PMS) is a rare genetic disorder caused by a deletion or mutation of the SHANK3 gene. It is characterized by global developmental delay, intellectual disability, speech and language delays, and behavioral issues. It is estimated to affect 1 in 50,000 to 1 in 100,000 individuals worldwide.