Table 5: Kabuki Syndrome phenotypic scoring system.
|
Phenotypes |
||
|
Clinical finding |
Possible score |
Scored features |
|
Facial features |
0-5 points | |
Abnormal dentition. Arched eyebrows, sparse lateral one-third. Blue sclerae. Broad nasal root. Everted lower eyelids. Flat nasal tip. High or cleft palate. Large dysplastic ears. Lip nodules. Long palpebral fissures. Micrognathia. Oiigodontia. Plosis. Strabismus. Thin vermillion of the upper lip and full lower lip. |
|
Limb/extremity features |
Up to 1 point |
Brachydactyiy or clinodactyly. Hip dislocation. Lax joints. Persistent fetal pads. |
|
Heart |
1 point |
|
|
Kidney |
1 Point |
|
|
Microcephaly |
1 Point |
|
|
Short stature |
1 Point |
|
|
Sum |
0-10 Points |
|
Adapted from Makrythanasis, et al. [12] 10-3 features = 1 Point; 4-6 features = 2 Points; 7-9 features = 3 Points; 10-12 features = 4 Points; 13-15 features = 5 Points; 0-1 features = 0 Point; 2-4 features = 1 Point.