SYNDROME, SHPRINTZEN

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. Syndrome, Stein-Leventhal: Known descriptively as polycystic ovarian disease (PCO), this syndrome is basically an hormonal problem that causes women to have a variety of symptoms including irregular or no periods, acne, obesity and excessive hair growth. Women with PCO are at a higher risk for uterine cancer (endometrial cancer), diabetes, high blood pressure, and heart disease. With proper treatment, risks can be minimized. The syndrome is named after the late American gynecologists Irving F. Stein, Sr. and Michael Leo Leventhal.