{"orpha":163662,"name":"Spondyloepiphyseal dysplasia, Reardon type","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by short stature, vertebral abnormalities (including irregular vertebral endplates especially in the dorsal spine, lumbar lordosis, spondylolysis, spondylolisthesis), femoral abnormalities (including small femoral capital epiphyses, flat femoral head and subluxation and sloping acetabulum) and cervical spine abnormalities typically manifest as atlantoaxial subluxation and instability associated with os odontoideum. Affected individuals present with severe neurological complications following minor trauma due to cervical instability, including quadriparesis, brisk reflexes, clonus, spasticity, bulbar palsy and seizures. Additional clinical features may include mild joint laxity, short, clubbed fingers, wasting of small hand muscles, tongue fasciculations and progressive breathing difficulty. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163662/","orphanet_url":"https://www.orpha.net/en/disease/detail/163662","names":{"fr":{"name":"Dysplasie spondylo-épiphysaire type Reardon","definition":"Dysplasie spondylo-épiphysaire et dysplasie spondylo-épimétaphysaire rare caractérisée par une petite taille, des anomalies vertébrales (de type plaques terminales vertébrales irrégulières, en particulier au niveau du rachis dorsal, une lordose lombaire, une spondylolyse, un spondylolisthésis), des anomalies fémorales (de type épiphyses fémorales petites, une tête fémorale plate et une subluxation et un déplacement acétabulaires) et des anomalies du rachis cervical se manifestant généralement par une subluxation atlanto-axiale et une instabilité associée à l'os odontoïde. Les personnes touchées présentent des complications neurologiques graves à la suite d'un traumatisme mineur dû à une instabilité cervicale, notamment une tétraparésie, des réflexes vifs, un clonus, une spasticité, une paralysie bulbaire et des convulsions. D'autres caractéristiques cliniques peuvent inclure une légère laxité articulaire, des doigts courts en baguettes de tambour, une atrophie des petits muscles de la main, des fasciculations de la langue et une difficulté respiratoire progressive. Aucun nouveau cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Dysplasie, spondyloepiphysäre, Typ Reardon","definition":"Eine seltene spondyloepiphysäre Dysplasie, die durch Kleinwuchs, Wirbelanomalien (einschließlich unregelmäßiger Wirbelendplatten, insbesondere in der dorsalen Wirbelsäule, Lendenlordose, Spondylolyse, Spondylolisthesis), Femuranomalien (einschließlich kleiner Femurkopfepiphysen, flacher Femurkopf und Subluxation und schräges Acetabulum) und Anomalien der Halswirbelsäule (die sich typischerweise als Atlantoaxial-Subluxation und Instabilität in Verbindung mit Os odontoideum manifestieren) gekennzeichnet ist. Betroffene Personen leiden aufgrund der Instabilität der Halswirbelsäule nach kleineren Traumata unter schweren neurologischen Komplikationen, darunter Tetraparese, lebhafte Reflexe, Klonus, Spastik, Bulbärparalyse und Krampfanfälle. Weitere klinische Merkmale können eine leichte Gelenkhypermobilität, kurze, klumpige Finger, Muskelschwund in den kleinen Handmuskeln, Zungenfasikulationen und fortschreitende Atembeschwerden sein. Seit 1994 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia espondiloepifisaria tipo Reardon","definition":"Es una displasia espondiloepifisaria y espondiloepimetafisaria poco frecuente caracterizada por talla baja, anomalías vertebrales (incluyendo placas vertebrales irregulares, especialmente en la columna dorsal, lordosis lumbar, espondilólisis y espondilolistesis), anomalías femorales (incluyendo epífisis femorales pequeñas, aplanamiento de la cabeza femoral, subluxación e inclinación del acetábulo), y anomalías de la columna cervical. Se manifiesta típicamente como subluxación atlantoaxial e inestabilidad asociada al hueso odontoideo. Los pacientes presentan complicaciones neurológicas graves tras un traumatismo leve debido a la inestabilidad cervical, incluyendo cuadriparesia, reflejos exaltados, clonus, espasticidad, parálisis bulbar y convulsiones. Otras características clínicas pueden incluir laxitud articular leve, dedos de las manos acortados e hipocráticos, atrofia de los músculos pequeños de la mano, fasciculaciones linguales y dificultad respiratoria progresiva. No se han descrito más casos en la literatura desde 1994."},"it":{"name":"Displasia spondiloepifisaria, tipo Reardon","definition":"La displasia spondiloepifisaria tipo Reardon è una forma molto rara di displasia spondiloepifisaria (si veda questo termine), descritta in alcuni soggetti appartenenti alla stessa famiglia; è caratterizzata da bassa statura, anomalie vertebrali e femorali, instabilità cervicale e sintomi neurologici secondari ad anomalie del processo odontoide."},"nl":{"name":"Spondylo-epifysaire dysplasie, Reardon-type","definition":"Een zeldzame spondylo-epifysaire dysplasie en spondylo-epimetafysaire dysplasie, gekenmerkt door kleine gestalte, afwijkingen van wervels (waaronder onregelmatige vertebrale eindplaten in voornamelijk de thoracale wervelkolom, lumbale lordose, spondylolyse, spondylolisthese), afwijkingen van femur (waaronder kleine epifysen van femurkop, afgevlakte femurkop, subluxatie van acetabulum/heupkom en hellend acetabulum) en afwijkingen van de cervicale wervelkolom die zich doorgaans manifesteren als subluxatie en instabiliteit van atlanto-axiaal gewricht geassocieerd met os odontoideum. Getroffen individuen presenteren zich met ernstige neurologische complicaties na klein trauma door instabiliteit van de cervicale wervelkolom, waaronder quadriparese, hoge reflexen, clonus, spasticiteit, bulbaire paralyse en insulten. Mogelijke bijkomende klinische kenmerken zijn onder meer milde gewrichtslaxiteit, korte trommelstokvingers, atrofie van kleine handspieren, fasciculaties van de tong, en progressieve ademhalingsmoeilijkheden. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia espondiloepifisária, tipo Reardon"},"pl":{"name":"Dysplazja kręgowo-nasadowa, typ Reardona"},"cs":{"name":"Spondyloepifyzární dysplázie, Reardonův typ"},"uk":{"name":"Спондилоепіфізарна дисплазія, тип Ріардона","definition":"Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process."},"zh":{"name":"Reardon 型脊柱骨骺发育不良","definition":"Reardon型脊椎骨骺发育不良是脊椎骨骺发育不良(见该词条)的一种极为罕见类型，至今有一个家庭中的个别成员描述，其特征是身材矮小、椎骨和股骨畸形、颈椎不稳以及继发于齿状突异常的神经系统表现。"},"tr":{"name":"Spondiloepifizyal displazi, Reardon tipi"}},"xrefs":[{"source":"OMIM","code":"600561","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":"1019322569"},{"source":"MONDO","code":"0010902","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305148","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":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"7747755[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7747755[PMID]"}],"phenotypes":null}