From: KBG syndrome
CLINICAL CHARACTERISTICS | % of KBG patients (counted individuals) |
---|---|
Major Features | |
Facial dysmorphisms | 100 (45) |
Prominent/high nasal bridge | 78 |
Thin upper lip | 71 |
Anteverted nostrils | 62 |
Brachycephaly/turricephaly | 60 |
Telecanthus/hypertelorism | 58 |
Long philtrum | 51 |
Wide eyebrows | 49 |
Prominent/anteverted ears | 42 |
Mild synophrys | 35 |
Epicanthal folds | 26 |
Ptosis | 24 |
Facial asymmetry | 24 |
Macrodontia | 100* (42) |
with oligodontia | 38 (45) |
Skeletal abnormalities | 100 |
Abnormal ribs/vertebrae | 83 (35) |
Delayed bone age | 79 (28) |
Short hand tubular bones | 78 (40) |
Brachy-clinodactylous 5th finger | 62 (45) |
Abnormal spine curvature | 58 (31) |
Short femoral necks/hip dysplasia | 50 (26) |
Sternum abnormalities | 29 (44) |
Wormian bones in skull | 19 (21) |
Cognitive deficits/psychomotor delay | 91 (45) |
Short stature (<10°c) | 77 (45) |
Abnormal EEG | 72 (25) |
with seizures | 24 (45) |
Abnormal hair implantation | 58 (45) |
Minor Features | |
Cutaneous syndactyly, toes II/III | 46 (45) |
Webbed/short neck | 42 (38) |
Cryptorchidism | 28 (29) |
Hearing loss | 23 (43) |
Palatal defects (including uvula) | 18 (38) |
Strabismus | 18 (45) |
Congenital heart defects | 9 (45) |