What Is Cornelia de Lange Syndrome?

By james
Reviewed: Dr. Gromatzky
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When people have children, the parent’s DNA is shared meaning that some of each parent’s characteristics will be passed on. There are numerous things that can happen when this happens, including genetic mutations. This means that, for some reason, there has been an ‘error’ in the copying of the DNA.

These errors will sometimes result in the child not developing as they should. One example of this is Cornelia de Lange syndrome, which can result in a number of physical and mental deformities. Patient’s with the condition will often go on to live for a normal life span, but the condition can severely impair their quality of life.

1. Cornelia de Lange Syndrome

The condition was first described in 1933 and takes its name from the Dutch pediatrician that first described it. It is a genetic disorder that is thankfully rare, and it can cause a number of malformations. Patients with the condition can also experience other symptoms, including behavioral problems.

The condition is thought to affect only around 1 in 10,000 to 1 in 30,000 people, but we cannot be sure of the exact numbers. One reason it is difficult to be sure is that many cases show only very mild symptoms. This means the syndrome will be missed in many cases.

Cornelia De Lange Syndrome

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