Synophrys, or fusion of the eyebrows in the midline, is strongly associated with:

• A. Cornelia de Lange syndrome
• B. Down's syndrome
• C. Klinefelter's syndrome
• D. Turner's syndrome

Answer: (A)

Synophrys, the fusion of the eyebrows in the midline, is a classic facial clue for Cornelia de Lange syndrome. This genetic disorder often presents at birth with distinctive facial features, including synophrys with eyebrows that meet in the middle, long lashes, a small upturned nose, and a short, smooth philtrum, along with growth retardation and varying degrees of developmental delay. Limb anomalies are also common, and a recognizable gestalt helps clinicians identify the syndrome early.

In contrast, Down syndrome typically shows a flat facial profile with upslanting palpebral fissures, epicanthal folds, and a single transverse palmar crease; Turner's syndrome features short stature and a webbed neck; Klinefelter syndrome is associated with tall stature and hypogonadism. The midline eyebrow fusion is not characteristic of these other conditions, so synophrys strongly points to Cornelia de Lange syndrome.