Di George Syndrome

Di Gheorghe Syndrome: Understanding and Perspectives

DiGeorge syndrome, also known as 22q11.2 deletion, is a genetic disorder that affects various systems of the body. First described by American pediatrician Andres Martin Di Gheorghe in 1968, this syndrome has a significant impact on the physical and mental development of people, affecting up to 1 in 2000 newborns.

DiGeorge syndrome is caused by the deletion of a small piece of DNA on chromosome 22. This removal can lead to a variety of problems, including heart abnormalities, immune system problems, facial and pharyngeal developmental problems, and delays in psychomotor development. Patients may also exhibit problems with hearing, vision, digestion, and kidney function.

One of the most characteristic features of DiGeorge syndrome is heart failure. Many children with this syndrome are born with congenital heart defects, such as atrioventricular defective membrane or tetralogy of Fallot. These cardiac abnormalities may require surgery at a very early age.

In addition, DiGeorge syndrome is also associated with a wide range of mental disorders. About 30% of patients have mental health problems, including schizophrenia, autism, depression and anxiety disorders. These mental health problems can significantly impact a patient's quality of life and require specialized intervention and support.

DiGeorge syndrome is a chromosomal disorder, but its presentation and severity can vary significantly between patients. Diagnosis is based on clinical symptoms, genetic tests and examinations. It is important to detect the syndrome early so that appropriate treatment and support can be initiated.

Although DiGeorge syndrome has no cure, modern medicine offers various treatments and support for patients with this disorder. This may include surgery to correct heart abnormalities, therapy to improve speech and motor development, and psychological support to manage mental health problems.

Thanks to improved genetic techniques and medical science, today we have more understanding about DiGeorge syndrome, its causes and effects on the body. More importantly, research continues and new perspectives in the treatment and management of the syndrome are emerging. Some studies focus on developing gene therapy to compensate for the deleted DNA fragment or on exploring new pharmacological approaches.

However, in addition to medical treatment, patients with DiGeorge syndrome and their families also need social and emotional support. Educational programs and resources aimed at understanding the syndrome and helping patients can significantly improve quality of life and integration into society.

In conclusion, DiGeorge syndrome is a genetic disorder that has multiple effects on the body. This condition requires a comprehensive and multidisciplinary approach to diagnosis, treatment and patient support. Modern research and medical advances offer hope for improving the prognosis and quality of life for people suffering from DiGeorge syndrome.

Di George syndrome is a rare genetic disease characterized by the development of pigmentary retinopathy and sensorineural hearing loss. The syndrome was first described in 2018 by UCLA scientist David Signorieri and his colleagues.

DiGeorge syndrome is an autosomal recessive disorder, which means that mutations are required for the pathology to develop.