Introduction



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. 

Classic (or typical) CdLS can be easily recognised from birth by an experienced children’s doctor (paediatrician) or clinical geneticist (a doctor who diagnoses and supports families with genetic disorders). This is because individuals with CdLS often have distinctive facial features, growth patterns, and limb differences. These characteristics form the classic CdLS phenotype, which the physical, cognitive and behavioural characteristics associated with the syndrome.

The wider CdLS spectrum includes the classic (typical) CdLS phenotype, alongside similar but non-classic (atypical) characteristics of CdLS, which are caused by changes in genes associated with CdLS.


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