Velocardiofacial syndrome
Velocardiofacial syndrome (pronounced: vee-loh-kahr-dee-oh-FAY-shul sin-drohm), also known as 22q11.2 deletion syndrome, is a disorder caused by the deletion of a small part of chromosome 22. The syndrome is characterized by a range of physical and developmental problems.
Etymology
The term "Velocardiofacial syndrome" is derived from the Latin words 'velum' meaning veil, 'cardia' meaning heart, and 'facies' with reference to the face. It is named for the common clinical features, including a characteristic facial appearance, cardiac anomalies, and an absent or underdeveloped thymus and parathyroid glands.
Symptoms
People with Velocardiofacial syndrome often have a characteristic facial appearance, including elongated face, almond-shaped eyes, wide nose, and small ears. They may also have heart defects and poor immune system function due to the absence or underdevelopment of the thymus and parathyroid glands.
Related Terms
- Chromosome 22: One of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. The deletion of a small part of chromosome 22 results in Velocardiofacial syndrome.
- Thymus: A small organ in the upper chest that produces white blood cells for fighting infections.
- Parathyroid glands: Small glands in the neck that produce parathyroid hormone, which controls calcium levels in the blood and bones.
Diagnosis
Diagnosis of Velocardiofacial syndrome can be challenging due to the wide range of symptoms and severity. It is often diagnosed through a blood test that can identify the missing part of chromosome 22.
Treatment
Treatment for Velocardiofacial syndrome is focused on managing the symptoms and often involves a team of healthcare providers, including cardiologists, immunologists, and endocrinologists.
See Also
- DiGeorge syndrome: A condition with similar symptoms to Velocardiofacial syndrome, also caused by a deletion on chromosome 22.
External links
- Medical encyclopedia article on Velocardiofacial syndrome
- Wikipedia's article - Velocardiofacial syndrome
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