velocardiofaciellt

Velocardiofacial syndrome, also known as velocardiofacial syndrome or 22q11.2 deletion syndrome, is a genetic condition caused by a microdeletion on chromosome 22q11.2. The clinical presentation is variable, often affecting the heart, palate, immune system, and development, with additional facial features that may be subtle. The condition is part of a spectrum that also includes DiGeorge syndrome, and many patients share overlapping features.

Genetics and pathophysiology: The syndrome usually results from a monoallelic deletion of about 1.5 to 3 million base pairs at 22q11.2. Most cases occur de novo, but a portion are inherited in an autosomal dominant pattern. The deleted region includes several genes, notably TBX1, which is linked to many of the characteristic heart and craniofacial features. Penetrance and expression are highly variable, so the severity and range of features differ among individuals.

Clinical features: Common findings include conotruncal congenital heart defects (such as tetralogy of Fallot or right aortic arch), velopharyngeal insufficiency leading to speech problems, and palatal abnormalities. Immune deficiency due to thymic hypoplasia can occur, along with hypocalcemia from parathyroid involvement. Facial features may be subtle but can include a long face, almond-shaped eyes, and a small mouth. Developmental delays, learning disabilities, and a higher risk of neuropsychiatric disorders—such as anxiety, attention-deficit disorders, autism spectrum features, and later-onset schizophrenia—are reported.

Diagnosis and management: Diagnosis is confirmed by genetic testing, typically chromosomal microarray or related molecular methods. Care is multidisciplinary, involving cardiology, immunology, endocrinology, speech and language therapy, developmental services, and mental health support. Management focuses on treating heart defects, addressing calcium and immune issues, supporting speech and language development, and monitoring for educational and psychiatric needs.

Epidemiology and prognosis: Estimated incidence ranges from about 1 in 3,000 to 1 in 6,000 live births, with roughly equal distribution between sexes. Prognosis depends on the severity of organ involvement and access to comprehensive, coordinated care.