What Is Cornelia de Lange Syndrome?
Reviewed: Dr. Gromatzky
2. Causes
As mentioned, Cornelia de Lange syndrome is a genetic disorder. The cause of the disorder is usually a mutation in the patient’s genes. In more than 50% of cases, the gene responsible for the condition is the NIPBL gene. Other genes that can be responsible for the mutations include the HDAC8, RAD21, SMC1A, and SMC3 genes.
Cornelia de Lange syndrome can be separated into two main types. These are classic and non-classic. Each type might have a different underlying genetic disorder causing them, although there’s still a lot of research that needs to be to done to fully understand the condition.
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