DiGeorgevelocardiofacial

DiGeorge velocardiofacial syndrome is a term used for the 22q11.2 deletion syndrome, a common microdeletion disorder that encompasses several previously separate diagnoses, including DiGeorge syndrome and velocardiofacial syndrome. The condition results from a deletion at chromosome 22q11.2 and can affect multiple organ systems, with wide variation in presentation among individuals.

Major features commonly observed include congenital heart defects, especially conotruncal anomalies such as tetralogy of Fallot, truncus arteriosus, or interrupted aortic arch. Palatal abnormalities, including velopharyngeal insufficiency and sometimes cleft palate, are frequent and can contribute to feeding and speech difficulties. Immune system involvement due to thymic hypoplasia or aplasia can cause T-cell deficiency and increased susceptibility to infections, though the degree of immune impairment varies. Hypocalcemia from parathyroid gland involvement is another characteristic finding. Neurodevelopmental issues range from learning difficulties and developmental delay to attention-deficit/hyperactivity disorder and behavioral or autism spectrum features. Psychiatric disorders, including an elevated risk of anxiety, mood disorders, and schizophrenia in adolescence or adulthood, are increasingly recognized in affected individuals.

Genetically, most cases arise de novo, but the deletion can be inherited from an affected parent, in which case each child has about a 50% chance of inheriting it. The phenotype is highly variable, even within the same family. Diagnosis is made by genetic testing, with chromosomal microarray (or FISH in some settings) confirming the 22q11.2 deletion. Management requires a multidisciplinary approach, including cardiology, immunology, endocrinology (calcium management), speech and language therapy, psychology, genetics counseling, and regular developmental surveillance. Early intervention and tailored medical care improve long-term outcomes.