本综合征于1970年Aarskog首先报导。由于在临床上是以面部、手指及生殖器畸形为其主要特征,所以又称为“面—指—生殖器综合征”。 Aarskog综合征在临床上有下列表现; (1)身材:出生时的身长及体重大多在正常范围。但在婴幼儿期的生长发育明显减慢,身高往往下降到百分位数的3％以下,体重下降到百分位数的10％以下。到了青春期生长发育才明显加快,其身长可以迅速地长到一定的高度(一般为150～160cm)。(2)面部:圆脸,眼间距增宽,眼睑下垂,上腭发育不全,上耳轮肥厚下垂,人中沟宽长及下唇皱痕等。有的患者还可以出现斜视,上下颌咬合不正及唇裂和腭裂等。(3)胸部:不一定所有的患者均有异常, This syndrome was first reported by Aarskog in 1970. Because of its clinical features of the face, fingers and genital abnormalities as its main feature, it is also known as “face - finger - genital syndrome.” Aarskog syndrome in the clinical performance of the following: (1) Figure: height and weight at birth mostly in the normal range. However, the growth and development of infants and young children were significantly slowed down, often decreased to 3% of the height below the weight loss to less than 10% of the percentile. To adolescent growth and development was significantly accelerated, its length can quickly grow to a certain height (usually 150 ~ 160cm). (2) face: round face, eye widening, ptosis, palatal hypoplasia, hypertrophy of the upper ear droop, the width of the human ditch and lower lip wrinkles. Some patients can also appear strabismus, jaw bite and not cleft lip and cleft palate. (3) chest: not all patients have abnormalities,