Kabuki syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Kabuki make-up syndrome
Niikawa-Kuroki syndrome
Number of Symptoms 93
OrphanetNr: 2322
OMIM Id: 147920
300867
ICD-10: Q87.0
UMLs:
MeSH: C537705
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3.1 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital ectropion
 -Rare eye disease
 -Rare genetic disease
Congenital entropion
 -Rare eye disease
 -Rare genetic disease
Genetic malformation syndrome with short stature
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome associated with Pierre Robin syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic diaphragmatic or abdominal wall malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
Syndromic diaphragmatic or thoracic malformation
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004736) Crossed fused renal ectopia 5 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
4
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
7
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
8
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
9
 (HPO:0000074) Ureteropelvic junction obstruction 15 / 7739
10
 (HPO:0005218) Anoperineal fistula 2 / 7739
11
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
12
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
13
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
14
 (HPO:0007655) Eversion of lateral third of lower eyelids 3 / 7739
15
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
16
 (HPO:0000492) Abnormality of the eyelid Very frequent [Orphanet] 41 / 7739
17
 (HPO:0000431) Wide nasal bridge 290 / 7739
18
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
19
 (HPO:0100267) Lip pit Occasional [Orphanet] 9 / 7739
20
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
21
 (HPO:0000218) High palate 356 / 7739
22
 (HPO:0000637) Long palpebral fissure 21 / 7739
23
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
24
 (HPO:0000437) Depressed nasal tip 17 / 7739
25
 (HPO:0000175) Cleft palate 349 / 7739
26
 (HPO:0000298) Mask-like facies Occasional [Orphanet] 44 / 7739
27
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
28
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
29
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
30
 (HPO:0002553) Highly arched eyebrow Very frequent [Orphanet] 92 / 7739
31
 (HPO:0005338) Sparse lateral eyebrow Very frequent [Orphanet] 21 / 7739
32
 (HPO:0000436) Abnormality of the nasal tip Very frequent [Orphanet] 18 / 7739
33
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
34
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
35
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
36
 (HPO:0000592) Blue sclerae Frequent [Orphanet] 85 / 7739
37
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
38
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
39
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
40
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
41
 (HPO:0000400) Macrotia 108 / 7739
42
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
43
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
44
 (HPO:0000365) Hearing impairment 539 / 7739
45
 (HPO:0004467) Preauricular pit 39 / 7739
46
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
47
 (HPO:0000403) Recurrent otitis media 61 / 7739
48
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
49
 (HPO:0001263) Global developmental delay 853 / 7739
50
 (HPO:0001249) Intellectual disability 1089 / 7739
51
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
52
 (HPO:0000851) Congenital hypothyroidism 16 / 7739
53
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
54
 (HPO:0010314) Premature thelarche 4 / 7739
55
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
56
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
57
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
58
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
59
 (HPO:0009237) Short 5th finger 16 / 7739
60
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
61
 (HPO:0001212) Prominent fingertip pads 12 / 7739
62
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
63
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
64
 (HPO:0001374) Congenital hip dislocation 51 / 7739
65
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
66
 (HPO:0002023) Anal atresia 135 / 7739
67
 (HPO:0002025) Anal stenosis 23 / 7739
68
 (HPO:0002024) Malabsorption 142 / 7739
69
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
70
 (HPO:0002566) Intestinal malrotation 89 / 7739
71
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
72
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
73
 (HPO:0008897) Postnatal growth retardation 113 / 7739
74
 (HPO:0001513) Obesity Occasional [Orphanet] 172 / 7739
75
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
76
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
77
 (HPO:0001007) Hirsutism 91 / 7739
78
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
79
 (HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739
80
 (HPO:0001680) Coarctation of aorta 57 / 7739
81
 (HPO:0001631) Atria septal defect 274 / 7739
82
 (HPO:0001629) Ventricular septal defect 316 / 7739
83
 (HPO:0001973) Autoimmune thrombocytopenia 18 / 7739
84
 (HPO:0001878) Hemolytic anemia 83 / 7739
85
 (HPO:0002100) Recurrent aspiration pneumonia 6 / 7739
86
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
87
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
88
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
89
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
90
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
91
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
92
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
93
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: