Main facial and limb features | Present | Percentage (%) |
Midface hypoplasia | 42/45 | 93 |
Microcephaly (OFC <−2 SDS) | 4/53 | 8 |
Macrocephaly (OFC >+2 SDS) | 9/53 | 17 |
Hair | ||
Sparse anteriorly | 29/42 | 69 |
Thick and dense | 39/43 | 91 |
Eyes | ||
Deep set eyes | 25/43 | 58 |
Strabismus | 41/54 | 76 |
Sparse eyebrows | 23/43 | 54 |
Synophris | 11/43 | 26 |
Epicanthus | 18/44 | 41 |
Ptosis | 13/43 | 30 |
Hypertelorism | 20/44 | 45 |
Mouth and teeth | ||
Open mouth appearance | 44/45 | 98 |
Drooling | 40/50 | 80 |
Small mouth | 32/46 | 70 |
Thick lower lip | 36/46 | 78 |
Prominent central incisors | 16/32 | 50 |
Teeth anomalies | 32/34 | 94 |
Persistence of deciduous teeth | 23/26 | 88 |
Nose | ||
Anteverted nostrils | 23/44 | 52 |
Prominent nasal tip | 29/43 | 67 |
Prominent nasal bridge | 32/42 | 76 |
Narrow nasal bridge | 28/44 | 64 |
Ears | ||
Large prominent ears | 39/46 | 85 |
Limbs | ||
Small hands and feet | 21/34 | 62 |
Tapered fingers | 36/39 | 92 |
Vasomotor troubles | 15/31 | 48 |
Livedo of the limbs | 34/39 | 87 |
Valgus flat feet | 26/35 | 74 |
OFC, occipitofrontal circumference; SDS, SD score.