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velo-cardio-facial syndrome


<syndrome> Also known as shprintzen syndrome, this more than is a congenital malformation (birth defect) syndrome with cleft palate, heart defect, abnormal face, and learning problems. The condition is therefore called the velo-cardio-facial (vcf) syndrome. (the velum is the soft palate). Other less frequent features include short stature, small-than-normal head (microcephaly), mental retardation, minor ear anomalies, slender hands and digits, and inguinal hernia. The cause is usually a microdeletion in chromosome band 22q11.2, just as in digeorge syndrome. Vcf and digeorge syndromes are different clinical expressions of essentially the same chromosome defect. Of essentially the same chromosome defect.

(12 Dec 1998)


Terms mentioned in text: syndrome, shprintzen syndrome, congenital malformation, birth, defect, syndrome, cleft palate, heart, abnormal, face, learning, problems, condition, facial, velum, soft palate, less, frequent, features, short, stature, small, normal, head, microcephaly, mental retardation, minor, ear, anomalies, slender, hands, digits, inguinal hernia, cause, microdeletion, chromosome, band, just, clinical, expressions, same
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