CdLS Spectrum Clinical Criteria (scoring)

CdLS Spectrum Clinical Criteria (scoring)

The International CdLS Consensus Group has agreed on criteria for the CdLS spectrum which is based on the cardinal and suggestive features (as shown in Box 1). These criteria are based on points.

• A score of 11 or more indicates classic CdLS if at least 3 cardinal features are present.
  If a score of 11 or more is reached the diagnosis of CdLS is confirmed, regardless of whether there is a change in one of the 7 known genes for CdLS.

• A score of 9 or 10 indicates non-classic CdLS, if at least 2 cardinal features are present.
• A score of 4 or more is sufficient to warrant genetic testing for CdLS if there is at least 1 cardinal feature present.
• A score of 4 or less is insufficient to warrant genetic testing.

The following figure shows some of the cardinal features of CdLS:

Fig. 3: Cardinal facial features of Cornelia de Lange syndrome. Facial features that are the most characteristic for Cornelia de Lange Syndrome (CdLS) include the meeting of the medial eyebrows in the midline, thick eyebrows, a short nose, concave nasal ridge and upturned nasal tip, a long and smooth philtrum, a thin upper lip and downturned corners of the mouth. Non-facial features (not shown) that are considered to be cardinal features of CdLS include the absence of one or more fingers, the absence of all fingers and/or toes and hernias in the diaphragm.