{"orpha":90652,"name":"Otopalatodigital syndrome type 2","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OPD II syndrome","OPD syndrome 2"],"definition":"A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90652/","orphanet_url":"https://www.orpha.net/en/disease/detail/90652","names":{"fr":{"name":"Syndrome oto-palato-digital type 2","synonyms":["Syndrome OPD 2","Syndrome OPD II"],"definition":"Forme sévère du spectre du syndrome oto-palato-digital caractérisée par une dysmorphie faciale, une dysplasie squelettique sévère affectant le squelette axial et appendiculaire, des anomalies extra-squelettiques (dont des malformations du cerveau, du coeur, du système génito-urinaire et de l'intestin) et un faible taux de survie."},"de":{"name":"Oto-palato-digitales Syndrom Typ 2"},"es":{"name":"Síndrome oto-palato-digital tipo 2","definition":"Es una forma grave de trastorno del espectro del síndrome otopalatodigital. Está caracterizado por dismorfia facial, grave displasia esquelética con afectación del esqueleto axial y apendicular, anomalías extraesqueléticas (incluyendo malformaciones cerebrales, cardíacas, genitourinarias e intestinales) y baja supervivencia."},"it":{"name":"Sindrome oto-palato-digitale tipo 2","definition":"La sindrome oto-palato-digitale tipo 2 (OPD2) è una forma grave della sindrome oto-palato-digitale, ed è caratterizzata da dismorfismi facciali, displasia scheletrica grave che interessa la regione assiale ed appendicolare dello scheletro, anomalie extrascheletriche (malformazioni cerebrali, cardiache, genitourinarie e intestinali) e prognosi sfavorevole."},"nl":{"name":"Otopalatodigitaal syndroom type 2","synonyms":["OPD II syndroom","OPD syndroom 2"],"definition":"Een ernstige vorm van otopalatodigitaal syndroom-spectrumstoornis, gekarakteriseerd door een dysmorf gelaat, ernstige skeletdysplasie die het axiale en appendiculaire skelet aantast, extraskeletale anomalieën (waaronder malformaties van hersenen, hart, urogenitaal stelsel, en darmen) en een slechte overleving."},"pt":{"name":"Síndrome otopalatodigital tipo 2"},"pl":{"name":"Zespół uszno-podniebienno-palcowy typu 2","synonyms":["OPD II syndrome","OPD syndrome 2"]},"cs":{"name":"Otopalatodigitální syndrom, typ 2","synonyms":["OPD II syndrom","OPD 2 syndrom"]},"uk":{"name":"Отопалатодігітальний синдром, тип 2","synonyms":["Синдром OPD II","Синдром передчасного старіння 2"],"definition":"A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival."},"zh":{"name":"口面指综合征2型","synonyms":["OPD综合征II型"]},"tr":{"name":"Otopalatodijital sendromu tip 2","synonyms":["OPD sendromu 2","OPD II sendromu"]}},"xrefs":[{"source":"OMIM","code":"304120","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":"1897308206"},{"source":"MONDO","code":"0010571","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538089","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844696","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5802","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","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"17431908[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17431908[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20301567[PMID]","terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000674","label":"Anodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","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:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","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:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005640","label":"Abnormal vertebral segmentation and fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002990","label":"Fibular aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002869","label":"Flared iliac wings","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002738","label":"Hypoplastic frontal sinuses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002684","label":"Thickened calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006000","label":"Ureteral obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009702","label":"Carpal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100258","label":"Preaxial polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Occasional (29-5%)","criteria":null}]}}