Cornelia de Lange 综合征(CDLS)是一种以多发性先天性畸形和智力发育迟缓为特征的疾病,1930年由 Cornelia de Lange 首先报道,发病率约为1/10000,男女发病率相仿。此病可能与遗传因素有关。唯遗传方式尚不明确。据报道有一对单卵孪生子,其中仅一人患此综合征,因此有人认为可能与受精卵分裂后基因突变有关。临床表现为外貌独特:外鼻较小,鼻孔前倾,口唇向下,二眉凑近,睫毛长而卷曲、耳廓低位。常伴有听力减退,语言发育延迟,或兼有心脏损害,肢体和男性生殖器异常。年龄较大的患儿可能表现为性格特别,常独自嬉戏,不合群,面部表情淡漠,哭声低 Cornelia de Lange syndrome (CDLS) is a disease characterized by multiple congenital malformations and mental retardation. The first reported by Cornelia de Lange in 1930 was about 1/10000 with similar incidence of male and female. The disease may be related to genetic factors. The only way of inheritance is not yet clear. It is reported that there is a pair of monozygotic twins, of whom only one suffering from this syndrome, so some people think that may be related to gene mutation after fertilized egg division. The clinical manifestations of the unique appearance: smaller external nose, nostril forward, lips down, two eyebrows closer, long curly eyelashes, auricle low. Often accompanied by hearing loss, language development delay, or both heart damage, limbs and male genital abnormalities. Older children may show special character, often alone play, out of tune, facial expression indifference, low cry