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Table 1 Phenotypic summary of Chinese KS patients

From: Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

Patient

1

2

3

4

5

6

7

Literature (N = 40)

Chinese cohort (N = 47)

Non-Chinese cohort (N = 86) (Ref. 17)

Gender

Female

Female

Male

Female

Male

Male

Female

   

Age of diagnosis

1.3 yrs

11 Months

5 Months

7d

7 yrs

2.6 Months

3.2 yrs

   

Growth

 Short stature

+

+

+

+

23

57.4%

57%

Neurological abnormalities

 Intellectual disability

+

+

NA

+

+

+

32

80.4%

90%

 Seizures

4

8.5%

15%

 Cerebellar vermis dysplasia

1

2.1%

 

 Corpus callosum hypoplasia

1

2.1%

 

 Dany-Walker malformation

1

2.1%

 

 Thinning of pituitary

+

0

2.1%

 

 Delay myelination of cerebral

+

0

2.1%

 

 Hydrocephalus

1

2.1%

 

Craniofacial features

 Microcephaly

+

+

3

10.6%

41%

 Micrognathia

3

6.3%

39%

 High forehead and hairline

+

0

2.1%

 

 Low hairline

+

2

6.3%

 

 Hypertelorism

+

+

8

21.2%

 

 Epicanthus

+

8

19.1%

 

 Long palpebral fissures

+

+

+

15

38.2%

99%

 Strabismus

1

2.1%

37%

 Eversion of lateral third of lower eyelids

+

+

+

+

14

38.2%

87%

 Long eyelashes

+

+

9

23.9%

 

 Arched eyebrows

+

+

2

8.7%

 

 Sparse eyebrows

+

+

18

42.5%

 

 Depressed nasal tip

+

+

+

+

29

70.2%

80%

 Wide nasal bridge

+

+

+

7

21.9%

 

 A displastic ear

+

3

8.7%

 

 Large ears

+

+

+

29

68.0%

79%

 High-arched/cleft palate

+

+

+

24

57.4%

66%

 Thin upper vermillion

+

+

+

2

10.6%

76%

 Abnormal dentition

5

10.6%

51%

Congenital heart defect

+

+

+

+

+

+

14

42.6%

42%

 Aortic coartation

+

1

4.3%

 

 Atrial septal defect

+

+

+

+

6

21.7%

 

 Ventricular septal defects

+

+

+

+

6

21.7%

 

 Patent ductus arteriosus

+

+

1

6.5%

 

 Patent foramen ovale

+

+

+

+

+

5

21.7%

 

 Aortic arch dysplasia

+

0

2.2%

 

Internal organ problem

 Feeding difficulties

+

3

8.5%

 

 Anal atresia

+

3

8.5%

 

 Bilateral inguinal hernia

2

4.2%

 

 Splenomegaly

+

1

4.2%

 

 Cryptorchidism

1

2.%

 

 Hearing impairment

+

+

+

13

34.0%

25%

 Otitis media

+

12

27.6%

 

 Cholesteatoma

+

2

6.4%

 

 Cochlear dysplasia

+

0

2.1%

 

 Renal/ureter malformation

+

+

+

2

10.6%

40%

Musculoskeletal features

 Hip joint dislocation

+

+

9

23.4%

26%

 Right diaphyseal femoral fracture

+

0

2.1%

 

 Fifth finger clinodactyly

+

22

48.9%

84%

 Absent palmer transverse crease

+

5

12.7%

 

 Fingertip pads

+

24

53.2%

89%

Endocrine

 Hypoglycemia

+

+

2

8.5%

7–8%

 Early breast development

 

+

1

4.2%

28%