{"orpha":783,"name":"Rubinstein-Taybi syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Broad thumb-hallux syndrome","Broad thumbs-halluces syndrome"],"definition":"A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-783/","orphanet_url":"https://www.orpha.net/en/disease/detail/783","names":{"fr":{"name":"Syndrome de Rubinstein-Taybi","synonyms":["Syndrome des pouces et des gros orteils trop larges"],"definition":"Syndrome malformatif génétique rare, caractérisé par des anomalies congénitales (microcéphalie, faciès caractéristique, pouces et hallux larges), une petite taille, une déficience intellectuelle et des particularités comportementales."},"de":{"name":"Rubinstein-Taybi-Syndrom","synonyms":["Syndrom der breiten Daumen und Großzehen"],"definition":"Das Rubinstein-Taybi-Syndrom (RTS) ist gekennzeichnet durch angeborene Fehlbildungen (Mikrozephalie, spezifische faziale Dysmorphien, breite Daumen und Großzehen und postnatale Wachstumsretardierung), Intelligenzminderung und charakteristisches Verhalten."},"es":{"name":"Síndrome de Rubinstein-Taybi","definition":"Es un síndrome malformativo de origen genético poco frecuente caracterizado por anomalías congénitas (microcefalia, características faciales específicas y pulgares y primeros dedos de los pies anchos), talla baja, discapacidad intelectual y trastornos de la conducta."},"it":{"name":"Sindrome di Rubinstein-Taybi","definition":"Si tratta di una malattia malformativa genetica rara, caratterizzata da anomalie congenite (microcefalia, dismorfismi facciali caratteristici, pollici e alluci larghi), bassa statura, disabilità intellettiva e problemi comportamentali."},"nl":{"name":"Syndroom van Rubinstein-Taybi","synonyms":["Brede duim-hallux-syndroom","Brede duimen-halluces-syndroom"],"definition":"Een zeldzaam, genetisch malformatiesyndroom gekarakteriseerd door congenitale anomalieën (microcefalie, specifieke gelaatskenmerken, en brede duimen en dikke tenen), kleine gestalte, intellectuele achterstand en typische gedragskenmerken."},"pt":{"name":"Síndrome Rubinstein-Taybi","definition":"Uma síndrome de malformação genética rara caracterizada por anomalias congénitas (microcefalia, características faciais específicas e polegares e hálux largos), baixa estatura, perturbação do desenvolvimento intelectual e características comportamentais."},"pl":{"name":"Zespół Rubinsteina i Taybiego","synonyms":["Broad thumb-hallux syndrome","Broad thumbs-halluces syndrome"],"definition":"Rzadki, genetycznie uwarunkowany zespół malformacji, charakteryzujący się wadami wrodzonymi (małogłowie, specyficzne cechy twarzy, szerokie kciuki i paluchy), niskim wzrostem, niepełnosprawnością intelektualną i zaburzeniami zachowania."},"cs":{"name":"Rubinsteinův-Taybiho syndrom","synonyms":["Rubinstein-Taybiho syndrom"]},"uk":{"name":"Синдром Рубінштейна-Тейбі","synonyms":["Синдром широкого великого пальця","Синдром широких великих пальців"],"definition":"A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics."},"zh":{"name":"Rubinstein-Taybi综合征","synonyms":["宽指综合征"]},"tr":{"name":"Rubinstein-Taybi sendromu","synonyms":["Geniş başparmak-halluks sendromu","Geniş başparmak-halluks sendromu"]}},"xrefs":[{"source":"OMIM","code":"180849","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610543","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613684","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"692585833"},{"source":"MONDO","code":"0019188","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012415","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0035934","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7593","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039281","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"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":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]},{"orpha":98655,"name":"Lens shape anomaly","classifications":[147,156,189]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[{"orpha":353281,"name":"Rubinstein-Taybi syndrome due to 16p13.3 microdeletion","type":"Etiological subtype"},{"orpha":353277,"name":"Rubinstein-Taybi syndrome due to CREBBP mutations","type":"Etiological subtype"},{"orpha":353284,"name":"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"EP300","name":"EP300 lysine acetyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301699[PMID]","hgnc":"3373","ensembl":"ENSG00000100393","omim":"602700","loci":["22q13.2"],"via":{"orpha":353284,"name":"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"}},{"symbol":"CREBBP","name":"CREB binding lysine acetyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301699[PMID]","hgnc":"2348","ensembl":"ENSG00000005339","omim":"600140","loci":["16p13.3"],"via":{"orpha":353277,"name":"Rubinstein-Taybi syndrome due to CREBBP mutations"}},{"symbol":"CREBBP","name":"CREB binding lysine acetyltransferase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301699[PMID]","hgnc":"2348","ensembl":"ENSG00000005339","omim":"600140","loci":["16p13.3"],"via":{"orpha":353281,"name":"Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"}}],"inheritance":["Autosomal dominant","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Netherlands","status":"Validated","source":"2118773[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Netherlands","status":"Validated","source":"2118773[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-29","source":"20301699[PMID]","terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011087","label":"Talon cusp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009832","label":"Abnormal distal phalanx morphology of finger","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":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031087","label":"Absent pubertal growth spurt","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030434","label":"Pilomatrixoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}