KABUKI SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: KABUK2
Number of Symptoms 53
OrphanetNr:
OMIM Id: 300867
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
2
(HPO:0000486) Strabismus 576 / 7739
3
(HPO:0004322) Short stature 1232 / 7739
4
(HPO:0004325) Decreased body weight 492 / 7739
5
(HPO:0001998) Neonatal hypoglycemia 22 / 7739
6
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
7
(HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
8
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
9
(HPO:0006695) Atrioventricular canal defect rare [HPO:skoehler] 27 / 7739
10
(HPO:0001680) Coarctation of aorta rare [HPO:skoehler] 57 / 7739
11
(HPO:0005113) Dilatation of the aortic arch 12 / 7739
12
(HPO:0001642) Pulmonic stenosis rare [HPO:skoehler] 89 / 7739
13
(HPO:0001252) Muscular hypotonia 990 / 7739
14
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
15
(HPO:0010547) Muscle flaccidity 466 / 7739
16
(HPO:0001324) Muscle weakness 859 / 7739
17
(HPO:0011398) Central hypotonia 12 / 7739
18
(HPO:0000708) Behavioral abnormality 212 / 7739
19
(HPO:0001263) Global developmental delay 853 / 7739
20
(HPO:0001250) Seizures 1245 / 7739
21
(HPO:0001212) Prominent fingertip pads 12 / 7739
22
(HPO:0001156) Brachydactyly syndrome rare [HPO:skoehler] 180 / 7739
23
(HPO:0000252) Microcephaly 832 / 7739
24
(HPO:0002761) Generalized joint laxity 8 / 7739
25
(HPO:0002553) Highly arched eyebrow 92 / 7739
26
(HPO:0005338) Sparse lateral eyebrow 21 / 7739
27
(HPO:0000527) Long eyelashes 46 / 7739
28
(HPO:0001007) Hirsutism 91 / 7739
29
(HPO:0000769) Abnormality of the breast 5 / 7739
30
(HPO:0000689) Dental malocclusion 114 / 7739
31
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
32
(HPO:0000218) High palate 356 / 7739
33
(HPO:0000164) Abnormality of the teeth 291 / 7739
34
(HPO:0000668) Hypodontia 81 / 7739
35
(HPO:0000695) Natal tooth rare [HPO:skoehler] 42 / 7739
36
(HPO:0000455) Broad nasal tip 67 / 7739
37
(HPO:0000437) Depressed nasal tip 17 / 7739
38
(HPO:0002000) Short columella 11 / 7739
39
(HPO:0000637) Long palpebral fissure 21 / 7739
40
(HPO:0007655) Eversion of lateral third of lower eyelids 3 / 7739
41
(HPO:0000378) Cupped ear rare [HPO:skoehler] 34 / 7739
42
(HPO:0000400) Macrotia 108 / 7739
43
(HPO:0000411) Protruding ear 140 / 7739
44
(HPO:0001423) X-linked dominant inheritance 69 / 7739
45
(MedDRA:10072883) Brachydactyly 153 / 7739
46
(OMIM) Areolar fullness in infancy 1 / 7739
47
(OMIM) Behavioral difficulties 2 / 7739
48
(OMIM) Broad and/or depressed tip of nose 1 / 7739
49
(OMIM) Developmental delay, mild to severe 1 / 7739
50
(OMIM) Joint hyperlaxity 5 / 7739
51
(OMIM) Less than third centile 1 / 7739
52
(OMIM) Long eyelashes Sparse lateral eyebrows 1 / 7739
53
(OMIM) Occipitofrontal circumference less than third centile 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors ...
Clinical Description OMIM Lederer et al. (2012) studied 2 girls and a boy with Kabuki syndrome. The 2-year-old boy and 13-year-old girl had a typical Kabuki syndrome phenotype, including long palpebral fissures, lateral eversion of the lower eyelid, and moderate to ...
Molecular genetics OMIM By array CGH analysis in 2 unrelated Belgian girls with Kabuki syndrome who were negative for mutation in the MLL2 gene (602113), Lederer et al. (2012) identified de novo Xp11.3 microdeletions, both of which contained part or all ...