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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. 

There are criteria that will help recognizing if somebody could have CdLS. The International CdLS Consensus Group has agreed on criteria for the CdLS spectrum which are based on so-called cardinal and suggestive features.


Recommendation(s)

CdLS Spectrum Clinical Criteria (scoring)

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).
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.

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