ORPHA:2322
Kabuki syndrome
Synonyms: Kabuki make-up syndrome · Niikawa-Kuroki syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kabuki syndrome | Kabuki make-up syndrome · Niikawa-Kuroki syndrome |
| fr | Syndrome Kabuki | Kabuki make-up · Syndrome de Niikawa-Kuroki |
| de | Kabuki-Syndrom | Kabuki-Make-up-Syndrom · Niikawa-Kuroki-Syndrom |
| es | Síndrome de Kabuki | Síndrome de Niikawa-Kuroki · Síndrome de maquillaje Kabuki |
| it | Sindrome Kabuki | Sindrome "Kabuki make-up" · Sindrome di Niikawa-Kuroki |
| nl | Kabuki-syndroom | Kabuki make-up-syndroom · Syndroom van Niikawa-Kuroki |
| pt | Síndrome Kabuki | Síndrome Niikawa-Kuroki |
| pl | Zespół Kabuki | Zespół makijażu Kabuki · Zespół Niikawa i Kuroki |
| cs | Kabuki syndrom | Kabuki make-up syndrom · Niikawaův-Kurokiho sydrom · Niikawa-Kurokiho sydrom |
| uk | Синдром Кабукі | Синдром макіяжу кабукі · Синдром Ніікави-Курокі |
| zh | 歌舞伎综合征 | = en |
| tr | Kabuki sendromu | Kabuki makyaj sendromu · Niikawa-Kuroki sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147920 | E | validated | |
| OMIM | 300867 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0016512 | E | validated | |
| MeSH | C537705 | E | validated | |
| UMLS | C0796004 | E | validated | |
| GARD | 6810 | E | validated | |
| MedDRA | 10063935 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:98570Congenital ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KDM6A | Disease-causing germline mutation(s) in | Assessed | HGNC:12637 | ENSG00000147050 | 300128 | Xp11.3 | lysine demethylase 6A | 21882399[PMID]_22197486[PMID] |
| KMT2D | Disease-causing germline mutation(s) in | Assessed | HGNC:7133 | ENSG00000167548 | 602113 | 12q13.12 | lysine methyltransferase 2D | 21882399[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.16 / 100 000 | New Zealand | Value and class | Validated | 15108197[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.16 / 100 000 | Australia | Value and class | Validated | 15108197[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.1 / 100 000 | Europe | Value and class | Validated | [EXPERT]_21882399[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.1 / 100 000 | Japan | Value and class | Validated | 3067577[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
92 annotations · validated 2024-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000356 | Abnormality of the outer ear | Diagnostic criterion |
| HP:0003316 | Butterfly vertebrae | |
| HP:0007655 | Eversion of lateral third of lower eyelids | Diagnostic criterion |
| HP:0002937 | Hemivertebrae | |
| HP:0002553 | Highly arched eyebrow | Diagnostic criterion |
| HP:0001249 | Intellectual disability | Diagnostic criterion |
| HP:0000527 | Long eyelashes | |
| HP:0000400 | Macrotia | Diagnostic criterion |
| HP:0012758 | Neurodevelopmental delay | Diagnostic criterion |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000411 | Protruding ear | |
| HP:0009237 | Short 5th finger | |
| HP:0002000 | Short columella | Diagnostic criterion |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0008428 | Vertebral clefting | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0006482 | Abnormal dental morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000164 | Abnormality of the dentition | Diagnostic criterion |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0031087 | Absent pubertal growth spurt | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000389 | Chronic otitis media | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | Diagnostic criterion |
| HP:0001680 | Coarctation of aorta | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000437 | Depressed nasal tip | Diagnostic criterion |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0008947 | Floppy infant | Diagnostic criterion |
| HP:0000218 | High palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0000668 | Hypodontia | Diagnostic criterion |
| HP:0001252 | Hypotonia | |
| HP:0001373 | Joint dislocation | |
| HP:0001382 | Joint hypermobility | Diagnostic criterion |
| HP:0000637 | Long palpebral fissure | Diagnostic criterion |
| HP:0025186 | Marcus Gunn jaw winking synkinesis | |
| HP:0000252 | Microcephaly | |
| HP:0000691 | Microdontia | |
| HP:0000202 | Orofacial cleft | |
| HP:0000659 | Peters anomaly | |
| HP:0010314 | Premature thelarche | |
| HP:0001212 | Prominent fingertip pads | Diagnostic criterion |
| HP:0000508 | Ptosis | Diagnostic criterion |
| HP:0002719 | Recurrent infections | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | Diagnostic criterion |
| HP:0002119 | Ventriculomegaly | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0100542 | Abnormal localization of kidney | |
| HP:0001631 | Atrial septal defect | |
| HP:0000729 | Autistic behavior | |
| HP:0000592 | Blue sclerae | Diagnostic criterion |
| HP:0001156 | Brachydactyly | Diagnostic criterion |
| HP:0004209 | Clinodactyly of the 5th finger | Diagnostic criterion |
| HP:0000589 | Coloboma | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0004736 | Crossed fused renal ectopia | |
| HP:0000028 | Cryptorchidism | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0000081 | Duplicated collecting system | |
| HP:0002353 | EEG abnormality | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002827 | Hip dislocation | Diagnostic criterion |
| HP:0000126 | Hydronephrosis | |
| HP:0000998 | Hypertrichosis | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0030001 | Lagophthalmos | |
| HP:0100267 | Lip pit | |
| HP:0000482 | Microcornea | |
| HP:0000639 | Nystagmus | |
| HP:0001513 | Obesity | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000826 | Precocious puberty | |
| HP:0034323 | Reduced circulating growth hormone concentration | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001250 | Seizure | |
| HP:0200055 | Small hand | |
| HP:0000074 | Ureteropelvic junction obstruction | |
| Very rare (<4-1%) | ||
| HP:0012732 | Anorectal anomaly | |
| HP:0000825 | Hyperinsulinemic hypoglycemia | |
| HP:0000568 | Microphthalmia | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0030434 | Pilomatrixoma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30514738[PMID]_21882399[PMID]_33805950[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2322
- This record as JSON: /data/d/2322.json