22q11.2 deletion syndrome

22q11.2 deletion syndrome (also known as DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, or CATCH22) is the most common microdeletion syndrome in humans, caused by a small deletion on the long arm of chromosome 22. The deletion typically spans approximately 3 million base pairs and encompasses around 30–40 genes, including the TBX1 gene, which is considered a major contributor to many of the syndrome's features. The condition affects multiple body systems with highly variable expressivity, meaning that even individuals within the same family can present very differently. Key clinical features include congenital heart defects (particularly conotruncal malformations such as tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, and truncus arteriosus), palatal abnormalities (velopharyngeal insufficiency, submucous or overt cleft palate), characteristic facial features (hooded eyelids, broad nasal bridge, bulbous nasal tip, small ears), immune deficiency due to thymic hypoplasia or aplasia (leading to T-cell lymphopenia), hypocalcemia from hypoparathyroidism, feeding difficulties, and learning disabilities. Psychiatric and neurodevelopmental conditions are common, including developmental delay, attention deficit hyperactivity disorder, autism spectrum disorder, and a significantly elevated risk of schizophrenia and other psychotic disorders in adolescence and adulthood. There is currently no cure for 22q11.2 deletion syndrome, and management is multidisciplinary, tailored to each patient's specific manifestations. Cardiac defects often require surgical repair in infancy. Hypocalcemia is managed with calcium and vitamin D supplementation. Immune deficiency may require monitoring, prophylactic antibiotics, or in rare severe cases, thymus transplantation. Speech therapy, early intervention programs, and educational support are important for developmental and speech concerns. Psychiatric monitoring is recommended throughout life given the elevated risk of mental health conditions. Regular follow-up with a coordinated team of specialists—including cardiology, immunology, endocrinology, speech-language pathology, psychology, and genetics—is essential for optimal outcomes.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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