{"orpha":457193,"name":"KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Arboleda-Tham syndrome","KAT6A syndrome"],"definition":"A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457193/","orphanet_url":"https://www.orpha.net/en/disease/detail/457193","names":{"fr":{"name":"Syndrome de déficience intellectuelle-anomalies craniofaciales-hypotonie-cardiopathie lié à KAT6","synonyms":["Syndrome de Arboleda-Tham","Syndrome de KAT6A"],"definition":"Syndrome génétique rare du développement neurologique, caractérisé par un retard de développement global et une déficience intellectuelle de degré variable avec retard de développement du langage ou langage limité/absent, associés à une hypotonie néonatale, des difficultés d'alimentation, des malformations cardiaques et une dysmorphie faciale, principalement à type de pointe nasale large et de lèvre supérieure mince en forme de tente. Une microcéphalie, des infections fréquentes, des malformations gastro-intestinales et/ou oculaires ont également été décrites."},"de":{"name":"Intelligenzminderung-kraniofaziale Anomalien-Herzfehler-Syndrom, KAT6-assoziiert","synonyms":["Arboleda-Tham-Syndrom","KAT6A-Syndrom"],"definition":"Eine seltene neurologische Entwicklungsstörung, die durch eine globale Entwicklungsverzögerung (DD) und unterschiedliche Grade von Intelligenzminderung (ID) mit verzögerter oder eingeschränkter/abwesender Sprachentwicklung in Verbindung mit neonataler Hypotonie, Fütterungsschwierigkeiten, kardialen Anomalien und Gesichtsdysmorphien, vor allem einer breiten Nasenspitze und einer dünnen, gespannten Oberlippe, gekennzeichnet ist. Mikrozephalie, häufige Infektionen, gastrointestinale und/oder okuläre Anomalien wurden ebenfalls beschrieben."},"es":{"name":"Síndrome de discapacidad intelectual-anomalías craneofaciales-defectos cardíacos asociados al gen KAT6","synonyms":["Síndrome KAT6A","Síndrome de Arboleda-Tham"],"definition":"Es un trastorno del neurodesarrollo, poco frecuente y de origen genético, caracterizado por retraso global del desarrollo (RD) y discapacidad intelectual (DI) con desarrollo limitado o inexistente del habla asociado con hipotonía neonatal, dificultades de alimentación, anomalías cardíacas y rasgos faciales dismórficos, como punta nasal ancha y labio superior delgado en ''tienda de campaña''. También se ha descrito microcefalia, infecciones frecuentes, anomalías gastrointestinales y/u oculares."},"it":{"name":"Sindrome disabilità intellettiva-anomalie craniofacciali-cardiopatie correlata a KAT6","synonyms":["Sindrome KAT6A","Sindrome di Arboleda-Tham"],"definition":"Si tratta di una malattia rara del neurosviluppo, di origine genetica, caratterizzata da ritardo dello sviluppo globale e disabilità intellettiva di gravità variabile con limitazione/assenza del linguaggio, associati a ipotonia neonatale, difficoltà di alimentazione, cardiopatie e dismorfismi facciali (soprattutto punta del naso larga, e labbro superiore sottile ''a tenda''). I pazienti possono presentare anche microcefalia, infezioni frequenti e anomalie gastrointestinali e/o oculari."},"nl":{"name":"KAT6-gerelateerd intellectuele achterstand - craniofaciale anomalieën - hartdefecten-syndroom","synonyms":["KAT6A-syndroom","Syndroom van Arboleda-Tham"],"definition":"Een zeldzame, genetische neurologische ontwikkelingsstoornis, gekenmerkt door algehele ontwikkelingsachterstand en variabele gradaties van intellectuele achterstand met vertraagde of beperkte/afwezige spraakontwikkeling, geassocieerd met neonatale hypotonie, voedingsproblemen, hartanomalieën, en dysmorfe gelaatskenmerken, voornamelijk brede neuspunt en dunne, tentvormige bovenlip. Microcefalie, frequente infecties, gastro-intestinale en/of oculaire anomalieën werden ook reeds beschreven."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-anomalias craniofaciais-defeitos cardíacos autossómica dominante","synonyms":["Síndrome Arboleda-Tham","Síndrome KAT6A"]},"pl":{"name":"Związany z KAT6 zespół niepełnosprawności intelektualnej, wad twarzoczaszki i sercaszki oraz wad serca","synonyms":["Autosomalny dominujący zespół niepełnosprawności intelektualnej - anomalii twarzoczaszki - wad serca"]},"cs":{"name":"Syndrom zahrnující autozomálně dominantní mentální retardaci, kraniofaciální anomálie a srdeční vady","synonyms":["Arboleda-Tham syndrome","KAT6A syndrome"]},"uk":{"name":"Аутосомно-домінантний синдром інтелектуальної недостатності - черепно-лицьових аномалій - серцевих вад","synonyms":["Синдром Арболеда-Тама","Синдром KAT6A"],"definition":"A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described."},"zh":{"name":"常染色体显性遗传性智力障碍-颅面畸形-心脏缺陷综合征"},"tr":{"name":"Otozomal dominant zihinsel yetersizlik-kraniyofasiyal anomaliler-kalp defektleri sendromu"}},"xrefs":[{"source":"OMIM","code":"616268","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014558","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225396","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"KAT6A","name":"lysine acetyltransferase 6A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25728775[PMID]_25728777[PMID]","hgnc":"13013","ensembl":"ENSG00000083168","omim":"601408","loci":["8p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25728775[PMID]_25728777[PMID]_27133397[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":76.0,"area":"Worldwide","status":"Validated","source":"EXPERT"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-25","source":"25728775[PMID]_25728777[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","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":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007678","label":"Lacrimal duct stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Occasional (29-5%)","criteria":null}]}}