22q13 deletion / Phelan-McDermid Syndrome:
22q13 deletion, also known as Phelan-McDermid Syndrome, 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 is characterized by a range of developmental delays and intellectual disabilities.
Individuals with 22q13 deletion may exhibit delayed or absent speech, low muscle tone, and global developmental delays. They may also have behavioral issues such as autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and anxiety.
Phelan-McDermid Syndrome can also present with physical features like large ears, long face, and hypotonia (weak muscle tone). Additionally, some individuals may experience seizures and sleep disturbances.
Although there is no cure for 22q13 deletion / Phelan-McDermid Syndrome, early intervention and supportive therapies can help manage the symptoms and improve the quality of life for affected individuals.