Background+Information

Velocardiofacial syndrome (VCFS) is a genetic disorder that affects the pharyngeal and neurobehavioral development of an individual, which may result to conotruncal congenital heart defects (CHD), velopharygeal insufficiency, hypoparathyroidism, thymic aplasia or hypoplasia, craniofacial dysmorphism, learning disabilities, and psychiatric disorders (Fernandez, L., et. al., 2009). In some cases, individuals may have features such as microcephaly, mental retardation, short stature, slender hands and digits, minor auricular anomalies, and inguinal hernia (Hamosh A. & McKusick, V., 2012). In statistics, VCFS prevalence ranging from about 1:2000 to 1:7000 live births (Sphrintzen, R., 2008). Since the syndrome covered a wide range of phenotypic features, clinicians used certain clinical features that are easy to distinguish such as congenital heart disease occurred to approximately 70% cases of VCFS, palatal anomalies, chest vessel and ocular anomalies, psychiatric disorders, and language and speech impairment (Sphrintzen R., 2008). In 1980s, VCFS was confirmed to be inherited as an autosomal dominant gene (Shprintzen, R., 2008). The cause of the syndrome was found in 1992. VCFS are also named as DiGeorge syndrome, Sedlačlová syndrome, conotruncal anomalies face syndrome, Cayler syndrome, 22q11 deletion syndrome and CATCH 22 (as cited in Sphrintzen, R., 2008).