Cornelia de Lange Syndrome (CdLS) spectrum disorders are characterized by multiple organ system congenital anomalies that result from mutations in genes encoding core cohesin proteins SMC1A, SMC3, and RAD21, or proteins that regulate cohesin function such as NIPBL and HDAC8. HDAC8 is the Zn(2+)-dependent SMC3 deacetylase required for cohesin recycling during the cell cycle, and 17 different HDA...

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by specific facial, skeletal, and behavioral features associated with variable degrees of intellectual disabilities. Sleep disturbances have been reported in patients with CdLS including insomnia, sleep-disordered breathing, intrinsic sleep disorders, and circadian rhythm disorders. The prevalence of sleep-relate...

This pilot study was performed to produce data of the Children's Dietary Life Safety (CDLS) Index which is required by the Special Act on Safety Management of Children's Dietary Life and to evaluate the CDLS Index for 7 metropolitan cities and 9 provinces in Korea. To calculate the CDLS Index score, data regarding the evaluation indicators in the children's food safety domain and children's nut...

Little is known about the way in which the characteristics of autism spectrum disorder (ASD) develop and manifest across the age span in individuals with genetic syndromes. In this study we present findings from a two and a half year follow-up of the characteristics associated with ASD in three syndromes: Cornelia de Lange (CdLS), Fragile X (FXS), and Cri du Chat (CdCS). Parents and carers of 2...

Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder with an incidence rate between 1:10000 and 1:50000. It is characterized by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects.1 Patients with CdLS usually also have behavioral problems. CdLS has been found associated with mutations in the NIPBL, SMC1A, and SMC3 ge...

BACKGROUND Cornelia de Lange Syndrome (CdLS) is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities of limb development. OBJECTIVES To determine the pathogenesis of a patient with CdLS. METHODS We studied a patient with CdLS by whole exome sequencing, karyotyping and Agilent CGH Array. The ...

I am by nature a conservative person, not much of a risk taker. Yet in life we take risks all the time, even if we don’t know it. We take a chance in just crossing the street or driving to work. How great is the risk that something terrible will happen to us as a result? Very small, as we all know, or we’d never walk out of the door in the morning. We may even buy a lottery ticket (academic sal...

Introduction: Cornelia de Lange syndrome (CdLS) is a rare non-hereditary syndrome. The key diagnosis unique facial features, limb anomalies, and growth retardation. Cardiac defects with gastrointestinal genitourinary anomalies may be associated. Case Presentation: This case of neonatal CdLS that we think interesting due to its association novel congenital heart complex. Conclusions: Patients ha...

Cornelia de Lange syndrome (CdLS) is a clinically and genetically heterogeneous congenital anomaly. Mutations in the NIPBL gene account for a half of the affected individuals. We describe a family with CdLS carrying a novel pathogenic variant of the SMC1A gene identified by exome sequencing. The proband was a 3-yr-old boy presenting with a developmental delay. He had distinctive facial features...

BACKGROUND Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China. METHODS This is an observational study. Suspected patients were referred for further confirmation, clinical treatment, and genetic testing under voluntary condition. Demographi...