Abstract：
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postnatal growth retardation, extremity reduction defects, hirsutism and intellectual disability can be distinguished from the nonclassic phenotype, which is generally milder and more difficult to diagnose. In addition, the clinical features overlap with those of other neurodevelopmental disorders, so the use of consensus clinical criteria and artificial intelligence tools may be helpful in confirming the diagnosis. Pathogenic variants in NIPBL, which encodes a protein related to the cohesin complex, have been identified in more than 60% of patients, and pathogenic variants in other genes related to this complex in another 15%: SMC1A, SMC3, RAD21, and HDAC8. Technical advances in large-scale sequencing have allowed the description of additional genes (BRD4, ANKRD11, MAU2), but the lack of molecular diagnosis in 15% of individuals and the substantial clinical heterogeneity of the syndrome suggest that other genes and mechanisms may be involved. Although there is no curative treatment, there are symptomatic/palliative treatments that paediatricians should be aware of. The main medical complication in classic SCdL is gastro-esophageal reflux (GER), which should be treated early.
摘要：
CorneliadeLange综合征（CdLS）是一种罕见的先天性多系统发育障碍。临床表现变化很大，但是经典的表型，以独特的颅面特征为特征，出生前和出生后生长迟缓，四肢减少缺陷，多毛症和智力障碍可以与非经典表型区分开来，通常更温和，更难诊断。此外,临床特征与其他神经发育障碍的特征重叠，因此，使用共识临床标准和人工智能工具可能有助于确认诊断。NIPBL的致病变异，编码一种与粘附蛋白复合物相关的蛋白质，已经在超过60%的患者中被确认，与该复合物相关的其他基因中的致病变异还有15%：SMC1A，SMC3、RAD21和HDAC8。大规模测序的技术进步允许描述其他基因（BRD4，ANKRD11，MAU2），但15%的个体缺乏分子诊断以及该综合征的实质性临床异质性提示可能涉及其他基因和机制。虽然没有治愈性的治疗,儿科医生应该注意对症/姑息治疗.经典SCdL的主要并发症是胃食管反流（GER），应该及早治疗。
