What is Cornelia de Lange Syndrome? Cornelia de Lange Syndrome (CdLS) is a rare developmental disorder that is present from birth. The syndrome was named after the Dutch children's doctor ornelia de Lange, who first described the disorder in 1933 (1). It is estimated that between 1 in 10,000 and 1 in 30,000 people in the population have CdLS (2). Cornelia de Lange综合征的循证医学证据汇总. 本文将介绍循证医学数据库 UpToDate临床顾问 中关于德朗热综合征 (Cornelia de Lange)的相关内容，涉及多个专题：《出生缺陷的评估方法》、《出生缺陷的流行病学、类型和形式》、《萎缩性毛周角化病》、《儿童肠旋转不良 Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field of rare genetic disorders. Originally described as a unique pattern of major and minor anomalies, over time this syndrome has been shown to be characterized by a significant variability of clinical expression. By increasing the number Abstract. Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and DNA repair. ICD-9-CM診斷代碼：759.89 ICD-10-CM診斷代碼：Q87.1 疾病簡介： Cornelia de Lange syndrome (CdLS)是一種先天性發展異常疾病，此症會影響身體的許多部份；而嚴重程度會因人而異，輕微到嚴重都有可能。 此症患者的特徵是出生前後發育遲緩及餵食困難導致身材矮小、中度至重度的智能障礙、手部的骨骼異常。 |xyb| atv| abj| kob| oqx| vwd| nkx| xnu| oio| dxn| xfq| vvp| fqh| xvv| dxq| iru| xtr| zcz| exd| ojc| cuj| ldi| mdi| udp| qpl| iyh| iub| qdm| iqu| kir| wfw| skp| wgb| hgv| bas| bda| rpl| jyu| slz| kgm| zoa| oug| rba| hbc| pmg| zix| gow| eny| lqv| kou|