Information

Diagnostic approaches

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.

There are multiple approaches to get a diagnose. You can try to do it prior to birth, as early as possible. After birth you can get a clinical diagnose (by visual observation and by diagnoses of body defects). The definitive diagnose can be confirmed by molecular testing the genes for a mutation (since 2007).


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                 

Deepen your knowledge of Cornelia de Lange syndrome

We organize our information about Cornelia de Lange syndrome in topics. You can browse our topics below. Below each topic you might find more detailed topics with information that might be of interest to you.

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