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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

Updated: Mar 14, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Cornelia de Lange syndrome.

Doreen Crawford1, Annette Dearmun2

  • 1De Montfort University, Leicester.

Nursing Children and Young People
|October 8, 2016
PubMed
Summary

Cornelia de Lange syndrome is a rare congenital disorder impacting multiple body systems in children. This condition, named after its discoverer, requires comprehensive medical attention.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine

Background:

  • Cornelia de Lange syndrome (CdLS) is a rare genetic disorder.
  • It is characterized by a distinctive facial appearance, growth retardation, limb abnormalities, and developmental delays.
  • CdLS affects multiple organ systems, presenting a complex clinical picture.

Purpose of the Study:

  • To provide a comprehensive overview of Cornelia de Lange syndrome.
  • To highlight the genetic basis and clinical manifestations of CdLS.
  • To discuss current diagnostic and management strategies for affected children.

Main Methods:

  • Literature review of genetic studies and clinical case reports.
  • Analysis of diagnostic criteria and phenotypic variability.
  • Synthesis of information on multidisciplinary care approaches.

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Main Results:

  • CdLS is genetically heterogeneous, with mutations in genes like NIPBL, SMC1A, SMC3, RAD21, and HDAC8 identified as causative.
  • Phenotypic expression is highly variable, ranging from mild to severe.
  • Early and accurate diagnosis is crucial for timely intervention and management.

Conclusions:

  • Cornelia de Lange syndrome is a complex genetic disorder with significant impact on child development.
  • Multidisciplinary care is essential for optimizing outcomes in individuals with CdLS.
  • Further research is needed to understand the full spectrum of CdLS and develop targeted therapies.