22q13 deletion / Phelan-McDermid Syndrome synonyms
What other names are the 22q13 deletion / Phelan-McDermid Syndrome known by? Synonyms and other terms with which 22q13 deletion / Phelan-McDermid Syndrome is known.
22q13 deletion syndrome, also known as Phelan-McDermid Syndrome (PMS), is a rare genetic disorder caused by the deletion or loss of a small piece of genetic material on the long arm of chromosome 22. This syndrome was first described by Dr. Katy Phelan and Dr. Heather McDermid in 1998.
Individuals with 22q13 deletion syndrome may exhibit a range of symptoms and characteristics, including developmental delays, intellectual disability, speech and language impairments, autism spectrum disorder, and low muscle tone. Other features may include seizures, sleep disturbances, gastrointestinal issues, and behavioral challenges.
Phelan-McDermid Syndrome is often associated with a loss of SHANK3 gene, which plays a crucial role in the development and function of synapses in the brain. This loss of SHANK3 protein can lead to disruptions in neuronal communication and contribute to the neurological and developmental symptoms observed in individuals with the syndrome.
While there is currently no cure for 22q13 deletion syndrome, early intervention and individualized therapies can greatly improve the quality of life for affected individuals. These may include speech therapy, occupational therapy, behavioral interventions, and educational support. Additionally, genetic counseling is recommended for families affected by the syndrome to understand the inheritance pattern and potential risks for future pregnancies.
Research and awareness of Phelan-McDermid Syndrome are ongoing, with efforts focused on understanding the underlying genetic mechanisms, developing targeted treatments, and providing support for affected individuals and their families.
