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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).


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Please take note that the Ask the Expert service is comprised of volunteer professionals in various areas of focus. Answers are not considered a medical, behavioral, or educational consultation. Ask the Expert is not a substitute for the care and attention your child’s personal physician, psychologist, educational consultant, or social worker can deliver.