VCFS
Also written as: VCFS — Velocardiofacial Syndrome
Velocardiofacial syndrome, a genetic disorder with characteristic cardiac, facial, and palatal abnormalities visible on imaging.
Full Definition
Velocardiofacial syndrome (VCFS) is a genetic disorder caused by 22q11.2 deletion that presents with characteristic findings on pediatric imaging studies. Radiologic features include congenital heart defects (particularly conotruncal abnormalities), cleft palate or velopharyngeal insufficiency, and distinctive facial features. Pediatric radiologists must recognize the imaging patterns associated with VCFS to guide genetic testing and multidisciplinary care. The syndrome may also present with thymic hypoplasia, renal anomalies, and skeletal abnormalities that require imaging evaluation.
Usage
Usage note: Always spell out on first use in reports; maintain consistent capitalization as VCFS.
In Context
- "The constellation of cardiac and facial findings raised suspicion for VCFS requiring genetic consultation." — multidisciplinary report
- "Thymic hypoplasia on chest imaging supported the diagnosis of VCFS in this patient." — chest CT report