Makrythanasis et al reported a scoring system for phenotypic features of the Kabuki syndrome. The authors are from multiple institutions in Europe and India.
Patient selection: suspected Kabuki syndrome
Parts:
(1) facial features
(2) limb features
(3) other findings
Facial features:
(1) arched eyebrows w/sparse lateral one third
(2) blue sclerae
(3) everted lower eyelids
(4) long palpebral fissures
(5) ptosis
(6) strabismus
(7) large dysplastic ears
(8) broad nasal root
(9) flat nasal tip
(10) abnormal dentition
(11) oligodontia
(12) high or cleft palate
(13) micrognathia
(14) thin upper and full lower lip
(15) lip nodules
|
Number of Facial Features
|
Points
|
|
0
|
0
|
|
1 to 3
|
1
|
|
4 to 6
|
2
|
|
7 to 9
|
3
|
|
10 to 12
|
4
|
|
13 to 15
|
5
|
where:
• The reference gives 1 point for 0 facial features. This is inconsistent with a minimum total score of 0.
Limb features:
(1) brachy- or clinodactyly
(2) hip dislocation
(3) lax joints
(4) persistent fetal pads
|
Number of Limb Features
|
Points
|
|
0 or 1
|
0
|
|
2 to 4
|
1
|
Additional features:
(1) microcephaly
(2) short stature
(3) heart
(4) kidney
|
Parameter
|
Finding
|
Points
|
|
microcephaly
|
absent
|
0
|
|
|
present
|
1
|
|
short stature
|
absent
|
0
|
|
|
present
|
1
|
|
heart
|
absent
|
0
|
|
|
present
|
1
|
|
kidney
|
absent
|
0
|
|
|
present
|
1
|
total score =
= SUM(points for all of the parameters)
Interpretation:
• minimum score: 0
• maximum score: 10
• The score can help to identify a patient who should have genetic studies to confirm the diagnosis.
