Shprintzen 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.
|
|
|