Dysmorphisms | S1 | S2 | S3 | S4 | S5 | W1 | W2 | W3 | W4 | Total (%) |
---|---|---|---|---|---|---|---|---|---|---|
Height in cm (percentile) Short Stature | 112 (35.9) − | 160.5 (35.6) − | 146 (57.4) − | 132.5 (2.6) + | 124 (27.7) − | 165.4 (24.4) − | 131 (2.4) + | 130 (14) − | n/a | 2/8 (25%) |
Macrocephaly (percentile) | −(97) | +(> 99) | −(75) | +(> 99) | +(> 99) | −(83) | −(63) | +(> 99) | n/a | 4/8 (50%) |
Broad nasal bridge | + | + | + | + | + | – | + | – | n/a | 6/8 (75%) |
Prominent forehead | + | + | – | + | + | – | + | + | n/a | 6/8 (75%) |
Bulbous nose | + | + | + | + | + | – | – | – | n/a | 5/8 (63%) |
High arched palate | + | + | + | – | + | – | – | – | n/a | 4/8 (50%) |
Hypertelorism | – | + | – | + | + | – | + | – | n/a | 4/8 (50%) |
Clinodactyly | – | – | – | + | + | + | – | + | n/a | 4/8 (50%) |
Epicanthal folds | – | – | – | + | – | + | + | – | n/a | 3/8 (38%) |
Malocclusion | + | + | – | + | – | – | – | – | n/a | 3/8 (38%) |
Long philtrum | – | + | + | – | + | – | – | – | n/a | 3/8 (38%) |
Thick vermillion | – | + | + | + | – | – | – | – | n/a | 3/8 (38%) |
Single palmar crease | + | – | – | – | – | + | – | – | n/a | 2/8 (25%) |
Pectus excavatum | + | – | + | – | – | – | – | – | n/a | 2/8 (25%) |
Frontal hair upsweep | + | – | – | – | – | – | – | + | n/a | 2/8 (25%) |
Ptosis | – | + | – | – | – | – | – | – | n/a | 1/8 (13%) |
Pointed chin | – | – | – | – | + | – | – | – | n/a | 1/8 (13%) |
Bicuspid uvula | – | – | – | – | + | – | – | – | n/a | 1/8 (13%) |
Partial syndactyly 2nd and 3rd toes | + | – | – | – | – | – | – | – | n/a | 1/8 (13%) |
Deep set eyes | + | – | – | – | – | – | – | – | n/a | 1/8 (13%) |
Scoliosis | – | – | – | + | – | – | – | – | n/a | 1/8 (13%) |
Short neck | – | – | – | + | – | – | – | – | n/a | 1/8 (13%) |
Sacral dimple | – | – | + | – | – | – | – | – | n/a | 1/8 (13%) |
Hyperflexibility | + | – | – | – | – | – | – | – | n/a | 1/8 (13%) |
Long eyelashes | – | – | – | + | – | – | – | – | n/a | 1/8 (13%) |
Total number of dysmorphic features | 11 | 10 | 7 | 13 | 10 | 3 | 5 | 4 | n/a | 7.9 ± 3.6 |