CAPS2
Caps2: A Comprehensive Overview
Description:
Caps2, or chromosome 22q11.2 deletion syndrome, is a genetic disorder characterized by a deletion of material from the long arm of chromosome 22. This deletion affects numerous genes involved in embryonic and postnatal development, leading to a wide range of congenital anomalies, intellectual disability, and behavioral challenges.
Associated Diseases:
Individuals with Caps2 are at an increased risk of developing various medical conditions, including:
- Congenital heart defects (e.g., tetralogy of Fallot, ventricular septal defect)
- Neurodevelopmental disorders (e.g., intellectual disability, autism spectrum disorder)
- Immunodeficiency
- Kidney malformations
- Gastrointestinal abnormalities (e.g., cleft palate, esophageal atresia)
- Palatal defects (e.g., cleft palate)
Did you Know ?
Approximately 1 in every 4,000 individuals worldwide is affected by Caps2, making it one of the most common genetic deletion syndromes.
