{"orpha":168544,"name":"Spondylometaphyseal dysplasia, Golden type","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["X-linked spondylometaphyseal dysplasia"],"definition":"A rare spondylometaphyseal dysplasia characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. There have been no further description in the literature since 1977.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168544/","orphanet_url":"https://www.orpha.net/en/disease/detail/168544","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire type Golden","synonyms":["Dysplasie spondylo-métaphysaire liée à l'X"],"definition":"Dysplasie osseuse primaire rare caractérisée par une forme sévère de petite taille, un faciès grossier, une cyphoscoliose thoracolombaire et des articulations hypertrophiées avec des contractures. Un retard psychomoteur et une déficience intellectuelle peuvent également être associés. Les radiographies mettent en évidence des corps vertébraux plats, une ossification en dentelle des métaphyses des os longs et des crêtes iliaques, et une sclérose marquée de la base du crâne."},"de":{"name":"Dysplasie, spondylometaphysäre, Typ Golden","synonyms":["Dysplasie, spondylometaphysäre, X-chromosomale"],"definition":"Eine seltene spondylometaphysäre Dysplasie, die durch starken Kleinwuchs, grobe Gesichtszüge, thorakolumbale Kyphoskoliose und vergrößerte Gelenke mit Kontrakturen gekennzeichnet ist. Psychomotorische Verzögerungen und Intelligenzminderung können ebenfalls auftreten. Zu den radiologischen Merkmalen gehören flache Wirbelkörper, eine netzartige Ossifikation der Metaphysen der langen Knochen und der Beckenkämme sowie eine ausgeprägte Sklerose der Schädelbasis. Seit 1977 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia espondiloepifisaria tipo Golden","definition":"La displasia espondilometafisaria tipo Golden, es una displasia ósea primaria poco frecuente, caracterizada por talla baja, facies tosca, cifoescoliosis toraco-lumbar y articulaciones agrandadas con contracturas. También puede producir retraso en el desarrollo y discapacidad intelectual. Las características radiológicas incluyen cuerpos vertebrales planos, osificación tardía de las metáfisis de huesos largos y de las crestas ilíacas, así como marcada esclerosis de la base del cráneo. No ha habido nuevos casos descritos en la literatura desde 1997"},"it":{"name":"Displasia spondilometafisaria, tipo Golden","synonyms":["Displasia spondilometafisaria legata all'X"],"definition":"La displasia spondilometafisaria tipo Golden è una displasia scheletrica primitiva rara, caratterizzata da statura notevolmente bassa, aspetto grossolano del viso, cifoscoliosi toraco-lombare ed allargamento delle articolazioni con contratture. I pazienti possono presentare anche ritardo psicomotorio e disabilità intellettiva. Le radiografie evidenziano un appiattimento dei corpi vertebrali, un'ossificazione delle metafisi delle ossa lunghe e delle creste iliache che ricorda un pizzo, e una sclerosi marcata della base del cranio."},"nl":{"name":"Spondylometafysaire dysplasie, Golden-type","synonyms":["X-gebonden spondylometafysaire dysplasie"],"definition":"Een zeldzame spondylometafysaire dysplasie, gekenmerkt door ernstige kleine gestalte, grof aangezicht, thoracolumbale kyfoscoliose en vergrote gewrichten met contracturen. Psychomotorische en intellectuele achterstand kunnen ook geassocieerd zijn. Radiografische kenmerken zijn onder meer vlakke wervellichamen, netvormige ossificatie van de metafysen van pijpbeenderen en bekkenkam, en duidelijke sclerose van de schedelbasis. Sinds 1977 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia espondilometafisária, tipo Golden"},"pl":{"name":"Dysplazja kręgowo-przynasadowa, typu Goldena","synonyms":["Dysplazja kręgowo-przynasadowa sprzężona z chromosomem X"],"definition":"*Dysplazja kręgowo-przynasadowa typu Goldena jest rzadką, pierwotną dysplazją kostną, która j charakteryzuje się bardzo niskim wzrostem, grubymi rysami twarzy, kyfoskoliozą w odcinku piersiowo-lędźwiowym kręgosłupa i powiększeniem stawów z ich przykurczami. Zazwyczaj towarzyszy opóźnienie psychoruchowe i niepełnosprawność intelektualna. W badaniu radiologicznym widoczne są płaskie trzony kręgów, kostnienie o wzorcu koronki w okolicach przynasad kości długich i grzebieni biodrowych oraz wyraźna sklerotyzacja kości podstawy czaszki."},"cs":{"name":"Spondylometafyzární dysplázie, Goldenův typ","synonyms":["X-vázaná spondylometafyzární dysplázie"]},"uk":{"name":"Спондилометафізарна дисплазія, тип Голдена","synonyms":["Х-зчеплена спондилометафізарна дисплазія"],"definition":"Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base."},"zh":{"name":"Golden 型脊柱干骺端发育不良","synonyms":["X连锁脊柱干骺端发育不良"],"definition":"Golden型脊椎干骺端发育不良是一种罕见的原发性骨发育不良疾病，其主要临床表现为重度身材矮小、面容粗糙、胸腰段脊柱后凸和关节肥大伴挛缩。精神运动发育迟缓可能与智力障碍有关。影像学表现为扁平椎体，长骨干骺端和髂嵴花边样骨化和明显的颅底硬化。"},"tr":{"name":"Spondilometafizer displazi, Golden tip","synonyms":["X'e bağlı spondilometafizyal displazi"]}},"xrefs":[{"source":"OMIM","code":"313420","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"840695879"},{"source":"MONDO","code":"0010738","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796172","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8343","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":254,"name":"Spondylometaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}