A to Z of syndromes

A-Z of syndromes: Cornelia de Lange syndrome

Part three of our series for students: Cornelia de Lange syndrome. 
Cornelia de Lange

Cornelia de Lange syndrome is a congenital condition which has the potential to affect many of a child’s systems. It was named after the Dutch paediatrician who first identified it.

Like many syndromes there is a trajectory of severity, ranging from relatively mild to severe. It is relatively rare and affects between 1:10,000-1:30,000 infants.

The condition is genetic in origin and is a result of genes which mutate. There are a number of these which can be considered responsible for the syndrome.

In the majority of cases these would seem to be new mutations as there is no family history of the syndrome. Some researchers consider cases to be the result of X-linked transmission. The condition affects all races, and boys and girls are equally affected.

In situations where an individual


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