Phelan-McDermid Syndrome is a genetic disorder affecting chromosome 22, which can have consequences on brain development and function, as well as various bodily functions. It is a rare disease that can impact learning, communication, mobility, feeding, and sleep, among other aspects.
The syndrome is caused by the loss of a fragment of chromosome 22 or an alteration in the SHANK3 gene, crucial for nerve cell connections. This can affect neurological development and lead to diverse manifestations in type and severity, including developmental delays, speech and communication difficulties, decreased muscle tone, and intellectual disability. Sleep disorders, feeding difficulties, gastrointestinal problems, or epilepsy may also occur, and in some cases, characteristics associated with autism spectrum disorder.
Each person experiences the syndrome differently, so support and care needs vary. Many individuals require long-term medical monitoring and care, as well as specialized resources to enhance their well-being and quality of life. Diagnosis necessitates specific genetic tests and specialized medical evaluation.
Phelan-McDermid Syndrome remains poorly understood and can be difficult to identify, making it especially important to promote information and social awareness. Scientific research is fundamental for improving diagnosis and care. Support associations and entities play a vital role by offering information, guidance, and driving research.
Through this initiative, the Alfara del Patriarca City Council aims to contribute to making Phelan-McDermid Syndrome more visible and to emphasize the importance of building a more informed, inclusive society committed to individuals with rare diseases and their families.
