{"orpha":163665,"name":"Spondyloepiphyseal dysplasia tarda, Kohn type","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficiency. Typical radiographic features include platyspondyly, abnormal lumbar vertebral bodies with anterior tongue-like protrusions, and the presence of degenerative large joint changes in the shoulder, hip and knee joints manifesting as narrowing of the joint spaces and irregularities of the articulate surfaces. Dens epistropheus may be absent. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163665/","orphanet_url":"https://www.orpha.net/en/disease/detail/163665","names":{"fr":{"name":"Dysplasie spondylo-épiphysaire tardive type Kohn","definition":"Dysplasie spondylo-épiphysaire et spondylo-épimétaphysaire rare caractérisée par un nanisme à tronc court, une atteinte progressive de la colonne vertébrale et des épiphyses et une déficience intellectuelle légère à modérée. Les radiographies mettent typiquement en évidence une platyspondylie, des anomalies vertébrales avec des saillies antérieures en forme de langue, et la présence de lésions dégénératives des grosses articulations de l'épaule, de la hanche et du genou se manifestant par un rétrécissement et des irrégularités des surfaces articulaires. L'axis peut être absent. Aucun nouveau cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Dysplasie, spondyloepiphysäre verzögerte, Typ Kohn","synonyms":["Dysplasia spondyloepiphysaria tarda vom Typ Kohn"],"definition":"Eine seltene spondyloepiphysäre Dysplasie und spondyloepimetaphysäre Dysplasie, die durch einen Kleinwuchs des Rumpfes, eine fortschreitende Beteiligung der Wirbelsäule und der Epiphysen sowie eine leichte bis mittelschwere Intelligenzminderung gekennzeichnet ist. Zu den typischen Röntgenmerkmalen gehören Platyspondylie, abnorme Lendenwirbelkörper mit vorderen zungenförmigen Vorsprüngen und das Vorhandensein degenerativer großer Gelenkveränderungen in den Schulter-, Hüft- und Kniegelenken, die sich als Verengung der Gelenkspalte und Unregelmäßigkeiten der Gelenkflächen äußern. Der Dens epistropheus kann fehlen. Seit 1987 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia espondiloepifisaria tarda tipo Kohn","definition":"Es una displasia espondiloepifisaria y espondiloepimetafisaria poco frecuente caracterizada por talla baja significativa de tronco corto, afectación progresiva de la columna vertebral y de las epífisis, y deficiencia intelectual de leve a moderada. Las características radiológicas típicas incluyen platispondilia, anomalías de los cuerpos vertebrales lumbares con protuberancias anteriores en forma de lengua, y presencia de grandes alteraciones degenerativas en las articulaciones del hombro, la cadera y la rodilla, que se manifiestan como estrechamiento de los espacios articulares e irregularidades en la superficie de las articulaciones. La apófisis odontoides puede estar ausente. No se han descrito más casos en la literatura desde 1987."},"it":{"name":"Displasia spondiloepifisaria tardiva, tipo Kohn","definition":"La displasia spondiloepifisaria tardiva, tipo Kohn è caratterizzata da nanismo con tronco corto, progressivo coinvolgimento della colonna vertebrale e delle epifisi nonché da ritardo mentale lieve-moderato."},"nl":{"name":"Spondylo-epifysaire dysplasia tarda, Kohn-type","definition":"Een zeldzame spondylo-epifysaire dysplasie en spondylo-epimetafysaire dysplasie, gekenmerkt door dwerggroei met korte romp, progressieve betrokkenheid van wervelkolom en epifysen, en milde tot matige intellectuele achterstand. Typische radiografische kenmerken zijn onder meer platyspondylie, abnormale lumbale wervellichamen met anterieure tongachtige uitpuilingen, en de aanwezigheid van degeneratieve veranderingen van grote gewrichten in schouder, heup en knie die zich manifesteren als vernauwing van de gewrichtsruimten en onregelmatigheden van de gewrichtsoppervlakken. Dens axis is mogelijk afwezig. Sinds 1987 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia espondiloepifisária tardia, tipo Kohn","definition":"A displasia espondiloepifisária tardia, tipo Kohn é caracterizada por nanismo com tronco curto, envolvimento progressivo da coluna e das epífises e atraso mental ligeiro a moderado."},"pl":{"name":"Dysplazja kręgowo-nasadowa, typ Kohna"},"cs":{"name":"Spondyloepifyzární dysplázie s pozdním nástupem, Kohnův typ"},"uk":{"name":"Спондилоепіфізарна дисплазія пізня, тип Кона","definition":"Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit."},"zh":{"name":"Kohn型迟发性脊柱骨骺发育不良","definition":"Kohn型迟发性脊椎骨骺发育不良的特征是短躯干型侏儒症，脊柱和骨骺进行性受累，以及轻至中度的智力缺陷。"},"tr":{"name":"Spondiloepifizyal displazi tarda, Kohn tipi"}},"xrefs":[{"source":"OMIM","code":"271620","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":"758715188"},{"source":"MONDO","code":"0010073","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304888","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3612708[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3612708[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-17","source":"3612708[PMID]","terms":[{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002867","label":"Abnormality of the ilium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010665","label":"Bilateral coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005193","label":"Restricted large joint movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null}]}}