Finessalsyndrom

Finessalsyndrom, also known as Phelan-McDermid syndrome (PMS), is a rare genetic disorder caused by a deletion on the long arm of chromosome 22. This deletion typically affects the *SHANK3* gene, which plays a crucial role in the development and function of synapses, the connections between nerve cells. The severity and specific symptoms can vary widely among individuals with Finessalsyndrom.

Common features include developmental delay, intellectual disability, and significant speech and language impairments. Many individuals experience hypotonia, or low muscle tone, which can affect motor skills and feeding. Behavioral issues are also frequently observed, such as autism spectrum disorder characteristics, anxiety, and sleep disturbances. Some individuals may also have distinctive facial features, although these are not always apparent. Other potential health concerns can include kidney abnormalities, epilepsy, and gastrointestinal problems.

Diagnosis of Finessalsyndrom is typically made through genetic testing, such as chromosomal microarray analysis, which can detect the deletion on chromosome 22. There is no cure for Finessalsyndrom, but management focuses on addressing the specific symptoms and supporting the individual's development and well-being. This often involves a multidisciplinary team of specialists, including geneticists, neurologists, speech therapists, occupational therapists, and behavioral therapists. Early intervention and tailored support are key to maximizing an individual's potential and quality of life.