{"orpha":420561,"name":"Temple-Baraitser syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome","TMBTS"],"definition":"A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420561/","orphanet_url":"https://www.orpha.net/en/disease/detail/420561","names":{"fr":{"name":"Syndrome de Temple-Baraitser","synonyms":["Syndrome de déficit intellectuel sévère-aplasie/hypoplasie du pouce et de l'hallux","TMBTS"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard global de développement et une déficience intellectuelle sévère, une épilepsie, une hypoplasie/aplasie des ongles du pouce et du gros orteil, et une dysmorphie faciale."},"de":{"name":"Temple-Baraitser-Syndrom","synonyms":["Schwere Intelligenzminderung-Aplasia/Hypoplasie des Daumens und Hallux-Syndrom","TMBTS"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch eine globale Entwicklungsverzögerung und schwere Intelligenzminderung, Epilepsie, Hypoplasie/Aplasie der Nägel von Daumen und Großzehe sowie Gesichtsdysmorphien gekennzeichnet ist."},"es":{"name":"Síndrome de Temple-Baraitser","synonyms":["Síndrome de discapacidad intelectual grave-aplasia/hipoplasia del pulgar y el hallux","TMBTS"],"definition":"Es un síndrome genético y poco frecuente de anomalías congénitas múltiples que se define por un retraso global del desarrollo y una discapacidad intelectual grave, epilepsia, hipoplasia/aplasia de las uñas del pulgar y del primer dedo del pie, y dismorfia facial."},"it":{"name":"Sindrome di Temple-Baraitser","synonyms":["Sindrome disabilità cognitiva grave-aplasia/ipoplasia del pollice e dell'alluce"],"definition":"La sindrome di Temple-Baraitser (TBS) è una malattia genetica rara da anomalie congenite multiple, caratterizzata da ritardo dello sviluppo globale e disabilità intellettiva grave, epilessia, ipoplasia/aplasia delle unghie del pollice e dell'alluce, e dismorfismi facciali."},"nl":{"name":"Syndroom van Temple-Baraitser","synonyms":["Ernstige intellectuele achterstand - aplasie/hypoplasie van duim en hallux-syndroom","TMBTS"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gedefinieerd door algehele ontwikkelingsachterstand en ernstige intellectuele achterstand, epilepsie, hypoplasie/aplasie van nagels van duim en grote teen, en faciale dysmorfie."},"pt":{"name":"Síndrome Temple-Baraitser"},"pl":{"name":"Zespół Temple i Baraitsera","synonyms":["TMBTS","Zespół ciężkiej niepełnosprawności intelektualnej i aplazji/hipoplazji kciuka i palucha"]},"cs":{"name":"Templové-Baraitserův syndrom","synonyms":["Syndrom zahrnující těžkou mentální retardaci a aplázii/hypoplázii palců horních a dolních končetin","Temple-Baraitserův syndrom"]},"uk":{"name":"Синдром Темпла-Барайзера","synonyms":["Тяжка розумова відсталість - аплазія/гіпоплазія великого пальця та синдром клишоногості","TMBTS"],"definition":"A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism."},"zh":{"name":"Temple-Baraitser综合征","synonyms":["严重智力障碍-拇指和拇趾指综合​​症的轻度发育不良"],"definition":"坦普尔-Baraitser综合征是一种罕见的发育异常综合征，其特征是严重的智力障碍和手指远端发育不良，尤其是拇指和小指，伴有指甲发育不全。面部畸形并伴有假肌病性外观，可包括前额发际线高或前额发际线低合并中央卷发，前额扁平，上睑下垂，器官间距过宽，睑裂向下倾斜，上眦折叠，耳朵有较厚的螺旋，宽且下榻的鼻梁合并弯曲的鼻孔，鼻柱偏短，人中长，高腭弓，宽口，上唇或下唇的较厚，嘴角下垂。也有明显的肌张力低下，癫痫发作和全面发育延迟，和自闭症谱系障碍表现的报道。"},"tr":{"name":"Temple-Baraitser sendromu","synonyms":["TMBTS","Ağır zihinsel yetersizlik-aplazi/başparmak hipoplazisi ve halluks sendromu"]}},"xrefs":[{"source":"OMIM","code":"611816","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012735","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567516","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2678486","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9441","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":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KCNH1","name":"potassium voltage-gated channel subfamily H member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25420144[PMID]","hgnc":"6250","ensembl":"ENSG00000143473","omim":"603305","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"27282200[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27282200[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-03","source":"26818738[PMID]_25629734[PMID]_25420144[PMID]","terms":[{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001847","label":"Long hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012555","label":"Absent nail of hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006016","label":"Delayed phalangeal epiphyseal ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010803","label":"Everted upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012553","label":"Hypoplastic thumbnail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009660","label":"Short phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009648","label":"Triangular shaped distal phalanx of the thumb","frequency":"Occasional (29-5%)","criteria":null}]}}