Information

CdLS Spectrum Clinical Criteria (scoring)

Eltern, Betreuer, Gesundheitsdienstleister und Lehrer haben oft Bedenken und Fragen zur Pflege und zum Wohlbefinden von Menschen mit Cornelia-de-Lange-Syndrom.

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.

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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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