PhelanMcDermidszindróma

Phelan McDermid syndrome is a rare genetic disorder caused by a deletion of genetic material on the X chromosome. Specifically, it is a microdeletion on the long arm of the X chromosome, designated as Xq22.3. This deletion typically encompasses multiple genes, with the SHANK3 gene being considered a key player in the syndrome's characteristics. The severity and specific symptoms can vary widely among affected individuals due to the differing size and precise location of the deletion, as well as the specific genes involved.

Common features of Phelan McDermid syndrome can include intellectual disability, developmental delay, and absent or delayed speech. Individuals may also exhibit autistic behaviors, such as repetitive movements and social interaction difficulties. Hypotonia, or low muscle tone, is frequently observed, affecting motor skills and development. Other potential symptoms can include distinctive facial features, congenital anomalies, and behavioral issues.

Diagnosis is typically made through genetic testing, such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH), which can identify the specific deletion on the X chromosome. While there is no cure for Phelan McDermid syndrome, early intervention and supportive therapies, including speech therapy, occupational therapy, and behavioral therapy, can significantly improve outcomes and quality of life for affected individuals. Management focuses on addressing the specific symptoms and challenges presented by each person.