Velocardiofacial Syndrome

Velocardiofacial syndrome is an autosomal dominant disease, characterized by abnormal facies, VPI, and cardiac anomalies.  It is caused by a deletion of 22q11.  patients have almond-shaped palpebral fissures, deficient nasal alae, tubular nose with bulbous tip,

small mouth, long face with vertical maxillary excess, malar flatness and mandibular retrusion.  Palatal clefting ranges from submucous clefting to overt wide cleft palate with

hypernasality.   Cardiac anomalies occur in 80 %, most commonly VSD; other anomalies include right-s ided aortic arch, tetralogy of Fallot, aortic valve disease.   Medial displacement of ICA’s present in up to 25 % of patients.

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