Lecture Notes

Introduction

Cornelia de Lange Syndrome (CdLS) is a rare multisystem developmental disorder characterized by distinctive facial features, growth retardation, limb anomalies, and varying degrees of intellectual disability. First described by Dutch pediatrician Cornelia de Lange in 1933, the syndrome has since been associated with mutations affecting the cohesin complex, crucial for chromosomal segregation and gene expression regulation.

Etiology and Genetics

• Genetic Basis: CdLS is primarily caused by mutations in genes related to the cohesin complex.
• Commonly Affected Genes:
  • NIPBL – accounts for approximately 60% of cases.
  • SMC1A, SMC3, RAD21, and HDAC8 – collectively responsible for a smaller percentage of cases.

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