Phelan Fast 5k

Phelan-McDermid Syndrome (PMS) is a rare genetic condition caused by genetic difference on the 22nd chromosome. This gene is crucial for normal brain development and function. The syndrome is characterized by a range of developmental and physical features, which can vary widely among individuals.

Key Features:
Intellectual Disability: Most individuals with PMS experience varying degrees of intellectual disability, often accompanied by developmental delays in speech and motor skills.
Autism Spectrum Disorder: Many individuals with PMS exhibit behaviors associated with autism, such as difficulties with social interaction and communication.
Hypotonia: Low muscle tone is common in infants and can affect motor skills and mobility.
Distinctive Facial Features: Some individuals may have unique facial characteristics, including a prominent forehead, wide-set eyes, and a small chin.
Seizures: Epileptic seizures can occur in some individuals, requiring medical management.
Health Issues: Other potential health problems may include gastrointestinal issues and sleep disturbances.
Diagnosis:
Diagnosis is typically made through genetic testing, which can confirm the presence of a genetic difference on the 22nd chromosome. 

Management:
While there is no cure for PMS, management focuses on addressing the individual needs of those affected. This may include:

Therapies: Early intervention services, speech therapy, physical therapy, and occupational therapy can help improve developmental outcomes.
Education: Tailored educational plans can support learning and social skills.
Medical Care: Regular health check-ups and management of associated conditions like seizures or gastrointestinal issues.
Support:
Families and caregivers often benefit from connecting with support groups and resources that provide information, advocacy, and emotional support for navigating the challenges of PMS.

Overall, Phelan-McDermid Syndrome (22q13) is a complex condition that requires a multidisciplinary approach to care and support.