{"orpha":2322,"name":"Kabuki syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kabuki make-up syndrome","Niikawa-Kuroki syndrome"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2322/","orphanet_url":"https://www.orpha.net/en/disease/detail/2322","names":{"fr":{"name":"Syndrome Kabuki","synonyms":["Kabuki make-up","Syndrome de Niikawa-Kuroki"],"definition":"Syndrome rare avec anomalies/troubles congénitaux multiples du neurodéveloppement caractérisé par cinq critères principaux : déficience intellectuelle (généralement légère à modérée), malformations viscérales (souvent cardiaques congénitales), persistance de l'aspect foetal des pulpes des doigts, petite taille postnatale, anomalies squelettiques (brachymesophalangie, brachydactylie du V, malformations de la colonne vertébrale et clinodactylie du cinquième doigt) et des caractéristiques faciales spécifiques (sourcils arqués et larges, longues fentes palpébrales, éversion de la paupière inférieure, grandes oreilles proéminentes, pointe nasale déprimée et columelle courte). Diverses autres anomalies/malformations sont fréquemment observées."},"de":{"name":"Kabuki-Syndrom","synonyms":["Kabuki-Make-up-Syndrom","Niikawa-Kuroki-Syndrom"],"definition":"Eine seltene multiple kongenitale Anomalie/neurologische Entwicklungsstörung, die durch fünf Hauptmerkmale gekennzeichnet ist: Intelligenzminderung (typischerweise leicht bis mittelschwer), viszerale Fehlbildungen (häufig angeborene Herzfehler), Persistenz der fetalen Fingerkuppen, postnataler Kleinwuchs, Skelettanomalien (Brachymesophalangie, Brachydaktylie V, Wirbelsäulenanomalien und Klinodaktylie des fünften Fingers) und spezifische Gesichtsmerkmale (gewölbte und breite Augenbrauen, lange Lidspalten, Eversion des Unterlids, große abstehende Ohren, vertiefte Nasenspitze und kurze Kolumella). Verschiedene zusätzliche Merkmale werden häufig beobachtet."},"es":{"name":"Síndrome de Kabuki","synonyms":["Síndrome de Niikawa-Kuroki","Síndrome de maquillaje Kabuki"],"definition":"Es un trastorno del neurodesarrollo/con múltiples anomalías congénitas poco frecuente caracterizado por cinco características principales: discapacidad intelectual (típicamente de leve a moderada), malformaciones viscerales (con frecuencia defectos cardíacos congénitos), persistencia del almohadillado fetal de los dedos, talla baja postnatal, anomalías esqueléticas (braquimesofalangia, braquidactilia del quinto dedo, anomalías de la columna vertebral y clinodactilia del quinto dedo de la mano) y rasgos faciales específicos (cejas anchas y arqueadas, fisuras palpebrales alargadas, eversión del párpado inferior, orejas grandes prominentes y ahuecadas, punta nasal deprimida y columela corta). Con frecuencia se observan otras característicasadicionales."},"it":{"name":"Sindrome Kabuki","synonyms":["Sindrome \"Kabuki make-up\"","Sindrome di Niikawa-Kuroki"],"definition":"La sindrome Kabuki (KS) è una malattia rara da anomalie congenite multiple/alterazioni del neurosviluppo, caratterizzata da cinque segni clinici principali: disabilità intellettiva (di solito lieve-moderata), malformazioni (spesso cardiopatie congenite), cuscinetti fetali sui polpastrelli delle dita, bassa statura postnatale, anomalie scheletriche (brachimesofalangia, brachidattilia del quinto dito, anomalie della colonna vertebrale e clinodattilia del quinto dito) e dismorfismi facciali caratteristici (sopracciglia ampie e arcuate, rime palpebrali lunghe, palpebra inferiore anteversa, orecchie a coppa grandi e prominenti, punta del naso infossata e columella corta). Spesso i pazienti presentano anche altri segni clinici."},"nl":{"name":"Kabuki-syndroom","synonyms":["Kabuki make-up-syndroom","Syndroom van Niikawa-Kuroki"],"definition":"Een zeldzame aandoening met multipele congenitale anomalieen/neurologische ontwikkelingsstoornis, gekenmerkt door vijf hoofdkenmerken: intellectuele achterstand (doorgaans mild tot matig), viscerale malformaties (vaak congenitale hartdefecten), persisterende foetale vingertopkussentjes, postnatale kleine gestalte, skeletanomalieën (brachymesofalangie, brachydactylie V, afwijkingen van wervelkolom, en clinodactylie van vijfde digitus), en specifieke gelaatskenmerken (gebogen en brede wenkbrauwen, lange ooglidspleten, eversie van onderste ooglid, grote prominent en komvormige oren, ingedrukte neuspunt, en korte columella). Vaak worden verschillende bijkomende kenmerken waargenomen."},"pt":{"name":"Síndrome Kabuki","synonyms":["Síndrome Niikawa-Kuroki"],"definition":"A Síndrome de Kabuki (SK) é uma síndrome de anomalias congénitas múltiplas caracterizada por características faciais típicas, anomalias esqueléticas, défice intelectual leve a moderado e atraso de crescimento pós-natal."},"pl":{"name":"Zespół Kabuki","synonyms":["Zespół makijażu Kabuki","Zespół Niikawa i Kuroki"]},"cs":{"name":"Kabuki syndrom","synonyms":["Kabuki make-up syndrom","Niikawaův-Kurokiho sydrom","Niikawa-Kurokiho sydrom"]},"uk":{"name":"Синдром Кабукі","synonyms":["Синдром макіяжу кабукі","Синдром Ніікави-Курокі"],"definition":"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."},"zh":{"name":"歌舞伎综合征","synonyms":["Kabuki make-up syndrome","Niikawa-Kuroki syndrome"]},"tr":{"name":"Kabuki sendromu","synonyms":["Kabuki makyaj sendromu","Niikawa-Kuroki sendromu"]}},"xrefs":[{"source":"OMIM","code":"147920","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300867","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1104246467"},{"source":"MONDO","code":"0016512","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796004","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6810","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063935","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98570,"name":"Congenital ectropion","classifications":[147,156,189]},{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[],"genes":[{"symbol":"KDM6A","name":"lysine demethylase 6A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21882399[PMID]_22197486[PMID]","hgnc":"12637","ensembl":"ENSG00000147050","omim":"300128","loci":["Xp11.3"]},{"symbol":"KMT2D","name":"lysine methyltransferase 2D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21882399[PMID]","hgnc":"7133","ensembl":"ENSG00000167548","omim":"602113","loci":["12q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.16,"area":"New Zealand","status":"Validated","source":"15108197[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.16,"area":"Australia","status":"Validated","source":"15108197[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.1,"area":"Europe","status":"Validated","source":"[EXPERT]_21882399[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.1,"area":"Japan","status":"Validated","source":"3067577[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-19","source":"30514738[PMID]_21882399[PMID]_33805950[PMID]","terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003316","label":"Butterfly vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007655","label":"Eversion of lateral third of lower eyelids","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008428","label":"Vertebral clefting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031087","label":"Absent pubertal growth spurt","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025186","label":"Marcus Gunn jaw winking synkinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000659","label":"Peters anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010314","label":"Premature thelarche","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004736","label":"Crossed fused renal ectopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000081","label":"Duplicated collecting system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030001","label":"Lagophthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100267","label":"Lip pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034323","label":"Reduced circulating growth hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030434","label":"Pilomatrixoma","frequency":"Very rare (<4-1%)","criteria":null}]}}