DiGeorgeVCFS

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a portion of chromosome 22. It is characterized by a wide range of physical and developmental abnormalities, including congenital heart defects, immune system dysfunction, and cognitive impairments. The syndrome is named after the pediatrician who first described it, Dr. Harry W. DiGeorge.

The deletion typically occurs during the early stages of embryonic development and is often inherited in an autosomal dominant manner. The exact cause of the deletion is not fully understood, but it is believed to be due to a spontaneous mutation or a familial genetic predisposition. The syndrome can also occur as a result of a balanced translocation, where a portion of chromosome 22 is exchanged with another chromosome.

Individuals with DiGeorge syndrome may exhibit a variety of symptoms, including a small jaw and palate, low-set ears, and a distinctive facial appearance. They may also have developmental delays, such as speech and language difficulties, and may require special education and therapeutic interventions. The immune system dysfunction can lead to recurrent infections and an increased risk of certain cancers.

The diagnosis of DiGeorge syndrome is typically made through genetic testing, which can identify the deletion on chromosome 22. There is currently no cure for the syndrome, but early intervention and supportive care can help manage the symptoms and improve the quality of life for affected individuals. Ongoing research is focused on developing better treatments and understanding the underlying mechanisms of the syndrome.