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Related Experiment Video

Updated: Jun 26, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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Published on: February 21, 2015

Cornelia de Lange Spectrum.

Ángela Ascaso¹, María Arnedo², Beatriz Puisac²

¹Consulta de Pediatría, Centro de Salud Delicias Sur, Zaragoza, Spain.

Anales De Pediatria

|May 12, 2024

Summary

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting multiple body systems. Early diagnosis and management of complications like GER are crucial for affected children.

Keywords:

CdLS CdLSp Cohesin Cohesina Cornelia de Lange spectrum Cornelia de Lange syndrome ECdL Espectro Cornelia de Lange HDAC8 NIPBL RAD21 SCdL SMC1A SMC3 Síndrome Cornelia de Lange

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Area of Science:

Genetics
Developmental Biology
Pediatrics

Background:

Cornelia de Lange syndrome (CdLS) is a rare congenital disorder with significant clinical variability.
Features range from classic phenotypes with distinctive facial features and growth retardation to milder, non-classic forms.
Diagnostic challenges arise due to overlapping symptoms with other neurodevelopmental disorders.

Purpose of the Study:

To provide an overview of Cornelia de Lange syndrome (CdLS).
To highlight diagnostic criteria and genetic underpinnings.
To inform pediatricians about management and complications.

Main Methods:

Review of clinical presentations and diagnostic approaches for CdLS.
Analysis of genetic variants associated with CdLS, focusing on the cohesin complex.
Discussion of symptomatic treatments and common medical complications.

Main Results:

Pathogenic variants in NIPBL are found in over 60% of CdLS cases, with other cohesin-related genes implicated in 15%.
Additional genes like BRD4, ANKRD11, and MAU2 have been identified through advanced sequencing.
A significant percentage of individuals lack a molecular diagnosis, indicating potential for undiscovered genetic factors.

Conclusions:

CdLS diagnosis can be aided by clinical criteria and AI tools, despite its heterogeneity.
While no cure exists, early recognition and management of complications, particularly gastro-esophageal reflux (GER), are vital.
Further research is needed to identify all causative genes and mechanisms for CdLS.