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.
