{"orpha":168451,"name":"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["SEMDAD"],"definition":"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168451/","orphanet_url":"https://www.orpha.net/en/disease/detail/168451","names":{"fr":{"name":"Syndrome de dysplasie spondylo-épimétaphysaire-dentition anormale","synonyms":["SEMDAD"],"definition":"Dysplasie osseuse primaire rare caractérisée par l'association d'anomalies dentaires (oligodontie avec incisives pointues) et d'une platyspondylie généralisée avec atteinte épiphysaire et métaphysaire. Les doigts fins et effilés et les plis palmaires accentués sont des caractéristiques supplémentaires."},"de":{"name":"Dysplasie, spondyloepimetaphysäre, mit gestörter Zahnentwicklung","synonyms":["SEMDAD"]},"es":{"name":"Síndrome de displasia espondiloepimetafisaria-dentición anómala","synonyms":["SEMDAD"],"definition":"El síndrome de displasia espondiloepimetafisaria - dentición anómala, es una displasia ósea primaria poco frecuente, caracterizada por la asociación de anomalías dentales (oligodontia con incisivos puntiagudos) y platispondilia generalizada con afectación epifisaria y metafisaria. Otras características adicionales son dedos finos y afilados, así como pliegues palmares acentuados."},"it":{"name":"Sindrome displasia spondiloepimetafisaria-anomalie della dentizione","synonyms":["SEMDAD"],"definition":"La sindrome che associa la displasia spondiloepimetafisaria e le anomalie della dentizione è una displasia scheletrica primitiva rara, caratterizzata da anomalie dei denti (oligodontia con incisivi appuntiti) e platispondilia generalizzata con interessamento delle epifisi e delle metafisi. Altri segni clinici sono le dita affusolate e le pieghe palmari accentuate."},"nl":{"name":"Spondylo-epimetafysaire dysplasie - abnormale dentitie-syndroom","synonyms":["SEMDAD"],"definition":"Spondylo-epimetafysaire dysplasie - abnormale dentitie-syndroom is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door de associatie van gebitsanomalieën (oligodontie met puntige snijtanden) en gegeneraliseerde platyspondylie met epifysaire en metafysaire betrokkenheid. Dunne, spitse vingers en uitgesproken handlijnen zijn bijkomende kenmerken."},"pt":{"name":"Síndrome de displasia espondiloepimetafisária-dentição anómala","synonyms":["SEMDAD"]},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa - nieprawidłowe uzębienie","synonyms":["SEMDAD"],"definition":"*Dysplazja kręgowo-nasadowo-przynasadowa - nieprawidłowe uzębienie jest rzadką, pierwotną dysplazją kostną, która charakteryzuje się nieprawidłowościami uzębienia (oligodoncja ze spiczastymi siekaczami) z towarzyszącym uogólnionym spłaszczeniem kręgów z zajęciem nasad i przynasad. Dodatkowe objawy to zwężające się palce i wyraźnie zaznaczone bruzdy na dłoniach."},"cs":{"name":"Syndrom zahrnující spondyloepimetafyzární dysplázii a abnormální dentici","synonyms":["SEMDAD"]},"uk":{"name":"Синдром спондилоепіметафізарної дисплазії-аномального зубного ряду","synonyms":["SEMDAD"],"definition":"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features."},"zh":{"name":"脊柱干骺端发育不良-异常牙列综合征","definition":"脊椎骨骺发育不良-牙列异常综合征是一种罕见的原发性骨发育异常疾病，其主要临床表现为牙齿异常（少牙伴尖切牙）和椎骨普遍变扁累及骨骺和干骺端，其它特征包括手指细瘦和明显的掌纹。"},"tr":{"name":"Spondiloepimetafizyal displazi-anormal dişlenme sendromu"}},"xrefs":[{"source":"OMIM","code":"601668","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1539903110"},{"source":"MONDO","code":"0011124","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"9018411[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9018411[PMID]"}],"phenotypes":null}