{"orpha":90650,"name":"Otopalatodigital syndrome type 1","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OPD I syndrome","OPD syndrome 1","Taybi syndrome"],"definition":"A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90650/","orphanet_url":"https://www.orpha.net/en/disease/detail/90650","names":{"fr":{"name":"Syndrome oto-palato-digital type 1","synonyms":["Syndrome OPD 1","Syndrome OPD I","Syndrome de Taybi"],"definition":"Forme la plus légère du spectre du syndrome oto-palato-digital, caractérisée par une dysplasie squelettique généralisée, une déficience intellectuelle légère, une surdité de conduction et des anomalies typiques du visage."},"de":{"name":"Oto-palato-digitales Syndrom Typ 1"},"es":{"name":"Síndrome oto-palato-digital tipo 1","definition":"Es la forma más leve del espectro del síndrome otopalatodigital, caracterizado por displasia esquelética generalizada, leve discapacidad intelectual, hipoacusia conductiva y anomalías faciales típicas"},"it":{"name":"Sindrome oto-palato-digitale tipo 1","definition":"La sindrome oto-palato-digitale tipo 1 (OPD1) è la forma più lieve della sindrome oto-palato-digitale, ed è caratterizzata da displasia scheletrica generalizzata, disabilità intellettiva lieve, sordità di conduzione e dismorfismi facciali caratteristici."},"nl":{"name":"Otopalatodigitaal syndroom type 1","synonyms":["OPD I syndroom","OPD syndroom 1","Syndroom van Taybi"],"definition":"De mildste vorm van otopalatodigitaal syndroom-spectrumstoornis, gekarakteriseerd door een gegeneraliseerde skeletdysplasie, milde intellectuele achterstand, conductief gehoorverlies, en typische faciale anomalieën."},"pt":{"name":"Síndrome otopalatodigital tipo 1"},"pl":{"name":"Zespół uszno-podniebienno-palcowy typu 1","synonyms":["OPD I syndrome","OPD syndrome 1","Taybi syndrome"]},"cs":{"name":"Otopalatodigitální syndrom, typ 1","synonyms":["OPD I syndrom","OPD 1 syndrom","Taybiho syndrom"]},"uk":{"name":"Отопалатодігітальний синдром, тип 1","synonyms":["Синдром OPD I","Синдром OPD 1","Синдром Тайбі"],"definition":"A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies."},"zh":{"name":"口面指综合征1型","synonyms":["Taybi综合征"]},"tr":{"name":"Otopalatodijital sendromu tip 1","synonyms":["OPD I sendromu","OPD sendromu 1","Taybi sendromu"]}},"xrefs":[{"source":"OMIM","code":"311300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1442049882"},{"source":"MONDO","code":"0010704","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536065","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265251","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5121","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":364541,"name":"Otopalatodigital syndrome spectrum disorder","classifications":[147,156,199]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301567[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20301567[PMID]","terms":[{"hpo":"HP:0000674","label":"Anodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002738","label":"Hypoplastic frontal sinuses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005640","label":"Abnormal vertebral segmentation and fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001850","label":"Abnormality of the tarsal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null}]}}