Moleculair diagnostic criteria
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome.
The genetic causes of CdLS are complex and research to fully understand all the genetic causes is still ongoing. The genetic make-up of a child cannot be changed after conception.
The CdLS spectrum has been associated with a change (mutation) in genetic material. Usually, CdLS is caused by a change in one of seven genes. Genes are individual genetic instructions in DNA that make us who we are. The seven genes associated with CdLS are: NIPBL, SMC1A, SMC3, RAD21, BRD4, HDAC8 and ANKRD11. A change in one of these genes affects what is known as the cohesin protein complex.
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More detailed sections on Cornelia de Lange syndrome
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