Velocardiofacial Syndrome
Velocardiofacial Syndrome (pronounced: vee-loh-kahr-dee-oh-fey-shuhl sin-drohm), also known as 22q11.2 deletion syndrome, is a genetic disorder that is caused by the deletion of a small part of chromosome 22. The syndrome is named for the problems it often causes with the heart (cardio), face (facial), and the velum, or soft palate.
Etymology
The term "Velocardiofacial" is derived from the Latin words "velum" meaning veil, "cardio" meaning heart, and "facial" meaning of the face. The syndrome is so named because it affects these three areas of the body.
Symptoms
Symptoms of Velocardiofacial Syndrome can vary widely, even among people in the same family. Common symptoms include heart defects, facial abnormalities, and problems with the soft palate. Other symptoms can include learning disabilities, behavioral problems, and immune system problems.
Causes
Velocardiofacial Syndrome is caused by the deletion of a small part of chromosome 22, specifically a region known as 22q11.2. This deletion occurs randomly during the formation of reproductive cells or in early fetal development.
Diagnosis
Diagnosis of Velocardiofacial Syndrome is typically made through a genetic test that can identify the deletion of the 22q11.2 region of chromosome 22. Other tests, such as echocardiogram and MRI, may be used to identify specific symptoms.
Treatment
There is no cure for Velocardiofacial Syndrome, but treatment can help manage symptoms. Treatment may include surgery to correct heart defects or facial abnormalities, speech therapy for problems with the soft palate, and educational support for learning disabilities.
Related Terms
- DiGeorge Syndrome: Another name for Velocardiofacial Syndrome, named after the doctor who first described it.
- Chromosome 22: The chromosome that is affected in Velocardiofacial Syndrome.
- Genetic Disorder: A disease caused by changes in the DNA sequence.
External links
- Medical encyclopedia article on Velocardiofacial Syndrome
- Wikipedia's article - Velocardiofacial Syndrome
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