CdLS Spectrum Clinical Criteria (scoring)

CdLS Spectrum Clinical Criteria (scoring)



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. 

The International CdLS Consensus Group has agreed on criteria for the CdLS spectrum which is based on the cardinal and suggestive features.


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R2: The International CdLS Consensus Group propose consensus criteria based on the presence of a combination of signs and features (see Box 1). A diagnosis of classic CdLS can be confirmed if a score of 11 is reached, irrespective of the presence of a variant in a gene known to result in CdLS.

R1: The CdLS spectrum encompasses a range of phenotypes consisting of classic (or typical) CdLS and non-classic CdLS, which are characterised by a combination of features (see Box 1).

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