Diagnosis

Diagnosis of Cornelia de Lange Syndrome

A diagnosis of Cornelia de Lange Syndrome can be made based on clinical features. This diagnosis is often supported by genetic testing, although the genetic cause cannot always be found.

A direct assessment made by clinicians with experience in genetic syndromes and neurodevelopmental conditions combined with an indirect evaluation which takes into consideration information given by the parents reduces misdiagnosis and allows for a better intervention plan.

The signs of Cornelia de Lange syndrome can vary between individuals and are sometimes referred to as ‘Classic’, ‘Mild’ and ‘Atypical’ forms.  There may be differences in the genetic mechanism underlying these different subtypes. However, this is not yet completely understood. To read more about the genetics of Cornelia de Lange syndrome, click here.