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shprintzen syndrome

(Science: syndrome) congenital malformation (birth defect) syndrome with cleft palate, heart defect, abnormal face, and learning problems. The condition is also 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. Shprintzen and digeorge syndromes are different clinical expressions of essentially the same chromosome defect.