Table 1.
Clinical finding | Frequency |
Facial features | |
Triangular face | +++ |
Small, pointed chin | +++ |
Micrognatia | +++ |
Down-slanting palpebral fissures | +++ |
Prominent nasolabial folds | +++ |
High arched palate | ++ |
Long philtrum | ++ |
Long face | + |
Attached ear lobes | + |
Cleft lip/palate | + |
Limbs | |
Ulnar deviation of fingers | +++ |
Clasped thumb | +++ |
Overlapping fingers | +++ |
Hypoplastic and/or absent flexion creases | +++ |
Camptodactyly | ++ |
Talipes equinovarus | ++ |
Overlapping toes | ++ |
Vertical talus | + |
Tarsal fusion | + |
Other features | |
Short stature | +++ |
Developmental delay | ++ |
Scoliosis | ++ |
Developmental dysplasia of the hip | ++ |
Short neck | + |
Webbed neck | + |