What causes CdLS?

What causes CdLS?

What causes CdLS?

Researches have identified genes that, wen altered, cause CdLS. Please see the genetic information for more details about these discoveries.

Genetic Information

In 2004, researchers at The Children’s Hospital of Philadelphia and the University of Newcastle upon Tyne, identified a gene (named NIPBL) on chromosome 5 that causes Cornelia de Lange Syndrome, or CdLS, when it is mutated or changed. Since then, two additional genes have been found (named SMC1A and SMC3) that cause CdLS when changed and there are likely others.

Researchers hope to gain a better understanding of why CdLS varies so widely from one individual to another and what can be done to improve the quality of life for people with the syndrome. As research continues and additional information is learned about the genes the World Federation will continue to update this site.

Why it is important to have found the CdLS genes
  • To confirm the diagnosis
  • To understand the diagnosis of CdLS, improve existing therapies, and design new medical therapies
  • To understand the role these gene changes play in development
  • To offer reassurance, through genetic testing, that other family members are not affected
  • To provide accurate information and counseling resources for future pregnancies
  • To generate broad interest about the syndrome in the medical/scientific research community

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