Fig. 3

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.