{"orpha":163668,"name":"Spondyloepiphyseal dysplasia, MacDermot type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome","Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome"],"definition":"A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes including lumbar lordosis and platyspondyly and sensorineural deafness. Adult-onset myopia and retinal detachment have been reported in some patients. Additional clinical features may include clinodactyly, pes planus and prominent heel. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163668/","orphanet_url":"https://www.orpha.net/en/disease/detail/163668","names":{"fr":{"name":"Dysplasie spondylo-épiphysaire type MacDermot","synonyms":["Syndrome de dysplasie spondylo-épiphysaire-myopie-surdité sensorielle"],"definition":"Dysplasie spondylo-épiphysaire et dysplasie spondylo-épimétaphysaire rares caractérisées par une petite taille, une dysplasie épiphysaire fémorale, de légères anomalies vertébrales, notamment une lordose lombaire et une platyspondylie, ainsi qu'une surdité de perception. Des cas de myopie et de décollement de la rétine à l'âge adulte ont été décrits chez certains patients. D'autres signes cliniques peuvent inclure une clinodactylie, des pieds plats et le talon proéminent. Aucun nouveau cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Dysplasie, spondyloepiphysäre, Typ MacDermot","synonyms":["Spondyloepiphysäre Dysplasie - Myopie - sensorineuraler Hörverlust"],"definition":"Eine seltene spondyloepiphysäre Dysplasie und spondyloepimetaphyseale Dysplasie, die durch Kleinwuchs, femorale epiphysäre Dysplasie, leichte Wirbelveränderungen einschließlich Lendenlordose und Platyspondylie sowie sensorineurale Taubheit gekennzeichnet ist. Bei einigen Patienten wurde über Myopie im Erwachsenenalter und Netzhautablösung berichtet. Weitere klinische Merkmale können Klinodaktylie, Pes planus und prominente Ferse sein. Seit 1987 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia espondiloepifisaria tipo MacDermot","synonyms":["Síndrome de displasia espondiloepifisaria-miopía-hipoacusia neurosensorial","Síndrome de displasia espondiloepifisaria-miopía-sordera neurosensorial"],"definition":"Es una displasia espondiloepifisaria y espondiloepimetafisaria poco frecuente caracterizada por talla baja, displasia epifisaria femoral, alteraciones vertebrales leves, incluyendo lordosis lumbar y platispondilia, y sordera neurosensorial. En algunos pacientes se ha descrito miopía y desprendimiento de retina de inicio en la edad adulta. Otras características clínicas pueden incluir clinodactilia, pie plano y talón prominente. No se han publicado más casos en la literatura desde 1987."},"it":{"name":"Displasia spondiloepifisaria tardiva, tipo MacDermot","synonyms":["Displasia spondilometafisaria - miopia - sordità neurosensoriale"],"definition":"La displasia spondiloepifisaria tardiva, tipo MacDermot è caratterizzata da bassa statura, displasia delle epifisi del femore, lievi alterazioni delle vertebre e sordità neurosensoriale."},"nl":{"name":"Spondylo-epifysaire dysplasie, MacDermot-type","synonyms":["Spondylo-epifysaire dysplasie - myopie - sensorineuraal gehoorverlies-syndroom","Spondylo-epifysaire dysplasie - myopie - sensorineurale doofheid-syndroom"],"definition":"Een zeldzame spondylo-epifysaire dysplasie en spondylo-epimetafysaire dysplasie, gekenmerkt door kleine gestalte, femorale epifysaire dysplasie, milde vertebrale veranderingen waaronder lumbale lordose en platyspondylie, en sensorineurale doofheid. In de volwassenheid optredende myopie en netvliesloslating werden gerapporteerd bij sommige patiënten. Mogelijke bijkomende klinische kenmerken zijn clinodactylie, pes planus (platvoet) en prominerende hiel. Sinds 1987 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia espondiloepifisária tardia, tipo MacDermot","definition":"A displasia espondiloepifisária (SED), tipo MacDermot é caracterizada por baixa estatura, displasia epifisária femoral, ligeiras alterações vertebrais e surdez neurossensorial."},"pl":{"name":"Dysplazja kręgowo-nasadowa, typ MacDermota","synonyms":["Spondyloepiphyseal dysplasia - myopia - sensorineural deafness"]},"cs":{"name":"Spondyloepifyzární dysplázie, MacDermotové typ","synonyms":["Syndrom zahrnující spondyloepifyzární dysplázii, myopii a senzorineurální hluchotu"]},"uk":{"name":"Спондилоепіфізарна дисплазія, тип МакДермота","synonyms":["Спондилоепіфізарна дисплазія-міопія-сенсоневральна приглухуватість","Спондилоепіфізарна дисплазія-міопія-сенсоневральна приглухуватість"],"definition":"Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness."},"zh":{"name":"MacDermot 型脊柱骨骺发育不良","synonyms":["脊柱骨骺发育不良-近视-感音神经性聋综合征"],"definition":"MacDermot型脊椎骨骺发育不良(SED)的特征是身材矮小、股骨骨骺发育不良、椎骨轻度改变和感音神经性耳聋。"},"tr":{"name":"Spondiloepifizyal displazi, MacDermot tipi","synonyms":["Spondiloepifizyal displazi-miyopi-sensörinöral sağırlık sendromu","Spondiloepifizeal displazi-miyopi-sensörinöral işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"184000","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":"800575171"},{"source":"MONDO","code":"0008472","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305149","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3681905[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3681905[PMID]"}],"phenotypes":null}