{"orpha":364541,"name":"Otopalatodigital syndrome spectrum disorder","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["OPD spectrum disorder","OPSD"],"definition":"Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-364541/","orphanet_url":"https://www.orpha.net/en/disease/detail/364541","names":{"fr":{"name":"Spectre phénotypique des ostéodysplasies oto-palato-digitales","synonyms":["OPSD","Spectre phénotypique des ostéodysplasies OPD","Spectre phénotypique des ostéodysplasies fronto-oto-palato-digitales"],"definition":"Dysplasie osseuse primaire englobant un groupe d'anomalies congénitales caractérisées par une dysplasie squelettique de gravité clinique variable et un mode de transmission dominant lié à l'X. Ce groupe comprend les syndromes oto-palato-digitaux type 1 et 2 (OPD1, OPD2) qui se caractérisent chez les hommes atteints par une fente palatine, une surdité de transmission, des anomalies craniofaciales et une dysplasie squelettique ; le syndrome de Melnick-Needles (MNS), qui se caractérise par des déformations squelettiques chez les femmes et une létalité embryonnaire ou périnatale chez la plupart des hommes ; la dysplasie fronto-métaphysaire (FMD) ; et la dysplasie osseuse terminale-défauts de pigmentation."},"de":{"name":"Syndrome des otopalatodigitalen Spektrums","synonyms":["OPD-Spektrum-Krankheiten","OPSD"]},"es":{"name":"Trastorno del espectro del síndrome otopalatodigital","synonyms":["OPSD","Trastorno del espectro del OPD"],"definition":"Es una displasia ósea primaria que engloba un grupo de anomalías congénitas caracterizadas por una displasia esquelética de gravedad clínica variable y un patrón de herencia dominante ligado al cromosoma X. Este grupo incluye el síndrome otopalatodigital tipo 1 y 2 (OPD1, OPD2), que en varones afectados se caracteriza por paladar hendido, pérdida auditiva conductiva, anomalías craneofaciales y displasia esquelética; el síndrome de Melnick-Needles (MNS), que muestra deformidades esqueléticas en mujeres y letalidad embrionaria o perinatal en la mayoría de varones; displasia frontometafisaria (FMD, por sus siglas en inglés); y displasia ósea terminal - defectos pigmentarios."},"it":{"name":"Malattie dello spettro della sindrome oto-palato-digitale","synonyms":["Malattia con spettro della OPD","OPSD"],"definition":"Le malattie dello spettro della sindrome oto-palato-digitale è una displasia scheletrica primitiva che comprende un gruppo di anomalie congenite caratterizzate da displasia scheletrica di gravità variabile a trasmissione dominante legata all'X. Ne fanno parte la sindrome oto-palato-digitale tipo 1 e 2 (OPD1, OPD2), caratterizzate, nei maschi, da palatoschisi, sordità di conduzione, anomalie craniofacciali e displasia scheletrica; la sindrome di Melnick-Needles (MNS), caratterizzata da deformità scheletriche, nelle femmine, e mortalità in epoca embrionale o perinatale nella maggior parte dei maschi; la displasia frontometafisaria (FMD); la displasia ossea terminale associata a difetti della pigmentazione."},"nl":{"name":"Otopalatodigitaal syndroom-spectrumstoornis","synonyms":["OPD-spectrumstoornis","OPSD"],"definition":"Otopalatodigitaal syndroom-spectrumstoornis is een primaire botdysplasie en omvat een groep congenitale anomalieën die gekarakteriseerd worden door skeletdysplasie met variabele gradaties van klinische ernst en een X-gebonden dominant overervingspatroon. Deze groep bevat otopalatodigitaal syndroom type 1 en type 2 (OPD1, OPD2), die in getroffen mannen gekarakteriseerd worden door gespleten verhemelte, conductief gehoorverlies, craniofaciale afwijkingen en skeletdysplasie; syndroom van Melnick-Needles (MNS), dat skeletmisvormingen vertoont in vrouwen en embryonale of perinatale sterfte bij de meeste mannen; frontometafysaire dysplasie (FMD); en terminale osseuze dysplasie - pigmentatiedefecten."},"pt":{"name":"Espectro clínico da síndrome otopalatodigital"},"pl":{"name":"Zaburzenia spektrum zespołu uszno-podniebienno-paliczkowego","synonyms":["OPSD","Zaburzenia spektrum OPD"]},"cs":{"name":"Nemoci ze spektra otopalatodigitálního syndromu","synonyms":["Poruchy OPD spektra","OPSD"]},"uk":{"name":"Порушення спектра отопалатодигітального синдрому","synonyms":["Порушення спектру OPD","OPSD"],"definition":"Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects."},"zh":{"name":"耳-腭-指综合征谱系障碍","synonyms":["OPD谱系综合征"],"definition":"耳腭指综合征谱系障碍是一种原发性骨发育不良，包括一组以不同临床严重程度的骨骼发育不良和X连锁显性遗传模式为特征的先天性畸形。这组疾病包括耳腭指综合征1型和2型(OPD1，OPD2)（其特征是受累男性表现出腭裂、传导性听力损失、颅面畸形和骨骼发育不良）、Melnick-Needles综合征(MNS)（在女性中表现为骨骼畸形，而男性大多数在胚胎期或围产期死亡）、额干骺端发育不良(FMD)以及终末性骨发育不良-色素缺损。"},"tr":{"name":"Otopalatodijital sendromu spektrum bozukluğu","synonyms":["OPSD","OPD spektrum bozukluğu"]}},"xrefs":[{"source":"MONDO","code":"0018233","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18233","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567577","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748918","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084408","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":669,"name":"OBSOLETE: Otopalatodigital syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93425,"name":"Filamin-related bone disorder","classifications":[156]},{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":137834,"name":"Frank-Ter Haar syndrome","type":"Disease"},{"orpha":1826,"name":"Frontometaphyseal dysplasia","type":"Disease"},{"orpha":2484,"name":"Melnick-Needles syndrome","type":"Malformation syndrome"},{"orpha":90650,"name":"Otopalatodigital syndrome type 1","type":"Malformation syndrome"},{"orpha":90652,"name":"Otopalatodigital syndrome type 2","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}