{"orpha":2332,"name":"KBG syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ANKRD11-related disorder","Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome"],"definition":"A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2332/","orphanet_url":"https://www.orpha.net/en/disease/detail/2332","names":{"fr":{"name":"Syndrome KBG","synonyms":["Maladie associée à ANKRD11","Syndrome de K.B.G.","Syndrome de petite taille-anomalies faciales et squelettiques-déficience intellectuelle-macrodontie"],"definition":"Syndrome malformatif congénital rare caractérisé par une dysmorphie faciale typique, une macrodontie des incisives centrales supérieures permanentes, une petite taille, des anomalies squelettiques, un retard de développement et des troubles du comportement."},"de":{"name":"KBG-Syndrom","synonyms":["ANKRD11-assoziierte Störung","Kleinwuchs-faziale und skelettale Anomalien-Intelligenzminderung-Makrodontie-Syndrom"],"definition":"Ein seltenes angeborenes Fehlbildungssyndrom, das durch typische Gesichtsdysmorphien, Makrodontie der bleibenden oberen zentralen Schneidezähne, Kleinwuchs, Skelettanomalien, Entwicklungsverzögerungen und Verhaltensauffälligkeiten gekennzeichnet ist."},"es":{"name":"Síndrome KBG","synonyms":["Síndrome de talla baja-anomalías faciales y esqueléticas-discapacidad intelectual-macrodoncia","Trastorno asociado a ANKRD11"],"definition":"Es un síndrome malformativo congénito, poco frecuente caracterizado por dismorfia facial típica, macrodoncia de los incisivos centrales superiores permanentes, talla baja, anomalías esqueléticas, retraso psicomotor y alteraciones de la conducta."},"it":{"name":"Sindrome KBG","synonyms":["Malattia correlata ad ANKRD11","Sindrome bassa statura-anomalie facciali e scheletriche-disabilità intellettiva-macrodontia","Sindrome bassa statura-anomalie facciali e scheletriche-deficit cognitivo-macrodontia","Bassa statura - anomalie facciali e scheletriche - deficit cognitivo - macrodontia"],"definition":"La sindrome KBG (KBGS) è una malattia rara da malformazioni congenite, caratterizzata da dismorfismi facciali caratteristici, macrodonzia degli incisivi centrali superiori permanenti, bassa statura, anomalie scheletriche, ritardo dello sviluppo e anomalie del comportamento."},"nl":{"name":"KBG-syndroom","synonyms":["ANKRD11-gerelateerde aandoening","Kleine gestalte - faciale en skeletale anomalieën - intellectuele achterstand - macrodontie-syndroom"],"definition":"Een zeldzaam congenitaal malformatiesyndroom, gekarakteriseerd door een typische faciale dysmorfie, macrodontie van permanente bovenste centrale snijtanden, kleine gestalte, skeletanomalieën, ontwikkelingsachterstand, en gedragsafwijkingen."},"pt":{"name":"Síndrome KBG","synonyms":["Síndrome de baixa estatura-anomalias faciais e esqueléticas-pertubação do desenvolvimento intelectual-macrodontia"]},"pl":{"name":"Zespół KBG","synonyms":["Niski wzrost - wady twarzy i szkieletu - niepełnosprawność intelektualna - makrodoncja"]},"cs":{"name":"KBG syndrom","synonyms":["Syndrom zahrnující nízký vzrůst, obličejové a kosterní anomálie, mentální retardaci a makrodoncii"]},"uk":{"name":"Синдром KBG","synonyms":["Синдром низькорослості - лицьових та скелетних аномалій - розумовоїа відсталості - макродонтії"],"definition":"A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities."},"zh":{"name":"KBG综合征","synonyms":["身材矮小-面骨异常-智力障碍-巨牙综合征"]},"tr":{"name":"KBG sendromu","synonyms":["Kısa boy-fasiyal ve iskelet anomalileri-zihinsel yetersizlik-makrodonti sendromu"]}},"xrefs":[{"source":"OMIM","code":"148050","qualifier":"E","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":"465550090"},{"source":"MONDO","code":"0007846","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537015","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220687","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"82","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084411","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ANKRD11","name":"ankyrin repeat domain 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21782149[PMID]_23184435[PMID]","hgnc":"21316","ensembl":"ENSG00000167522","omim":"611192","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":164.0,"area":"Worldwide","status":"Validated","source":"21782149[PMID]_29565525[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-30","source":"29258554[PMID]_6467660[PMID]_17230487[PMID]","terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008513","label":"Bilateral conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000891","label":"Cervical ribs","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012725","label":"Cutaneous syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001566","label":"Widely-spaced maxillary central incisors","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0045017","label":"Congenital malformation of the left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004474","label":"Persistent open anterior fontanelle","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000311","label":"Round face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}