DIGEORGE SYNDROME Meaning and
Definition
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DiGeorge Syndrome, also known as 22q11.2 deletion syndrome or velocardiofacial syndrome, is a genetic disorder caused by a deletion on chromosome 22. This condition affects multiple organ systems and can result in a wide range of physical and developmental abnormalities.
Individuals with DiGeorge Syndrome often exhibit congenital heart defects, such as ventricular septal defects or interrupted aortic arch. Common facial features associated with the condition include a flattened nose bridge, wide-set eyes, and a small mouth with a cleft palate. Low levels of calcium in the blood due to underdevelopment or absence of the parathyroid gland are also characteristic of DiGeorge Syndrome.
Furthermore, this disorder typically affects the immune system, leading to an increased susceptibility to infections. The thymus gland, responsible for the development of T-cells that play a crucial role in the immune response, is often underdeveloped or absent in individuals with DiGeorge Syndrome. This can lead to recurrent respiratory infections, viral illnesses, and autoimmune disorders.
Developmental delays are also common in individuals with DiGeorge Syndrome. This may include delays in speech and language skills, fine and gross motor skills, as well as cognitive and intellectual challenges. Additionally, psychiatric and behavioral disorders, such as attention deficit hyperactivity disorder (ADHD), anxiety, and autism spectrum disorder, are frequently observed in those affected by DiGeorge Syndrome.
DiGeorge Syndrome is typically diagnosed through genetic testing to identify the deletion on chromosome 22. Treatment for this condition involves managing the specific symptoms and complications that arise. This may include surgery to correct congenital heart defects or the use of hormone replacement therapy to address low calcium levels. Early intervention services, including speech therapy, physical therapy, and special education, can also help optimize the overall development and quality of
Common Misspellings for DIGEORGE SYNDROME
- sigeorge syndrome
- xigeorge syndrome
- cigeorge syndrome
- figeorge syndrome
- rigeorge syndrome
- eigeorge syndrome
- dugeorge syndrome
- djgeorge syndrome
- dkgeorge syndrome
- dogeorge syndrome
- d9george syndrome
- d8george syndrome
- difeorge syndrome
- diveorge syndrome
- dibeorge syndrome
- diheorge syndrome
- diyeorge syndrome
- diteorge syndrome
- digworge syndrome
- digsorge syndrome
Etymology of DIGEORGE SYNDROME
The term "DiGeorge Syndrome" is named after Dr. Angelo DiGeorge, an American pediatrician. He first described the condition in 1965 while working at Saint Christopher's Hospital for Children in Philadelphia, Pennsylvania.
The syndrome is characterized by a range of birth defects and medical conditions, mainly affecting the development of the organs and structures derived from the third and fourth pharyngeal pouches during early fetal development.
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