{"orpha":166277,"name":"Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Suarez-Stickler syndrome"],"definition":"A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166277/","orphanet_url":"https://www.orpha.net/en/disease/detail/166277","names":{"fr":{"name":"Dysplasie squelettique avec os wormien-fractures multiples-dentinogenèse imparfaite","synonyms":["Syndrome de Suarez-Stickler"],"definition":"Maladie squelettique rare caractérisée cliniquement par des fractures multiples, la présence d'os vermiens dans le crâne, une dentinogenèse imparfaite et une dysmorphie faciale (hypertélorisme, plénitude périorbitaire). Bien que les manifestations soient très similaires à celles de l'ostéogenèse imparfaite, les défauts corticaux typiques en l'absence d'ostéopénie et les anomalies du collagène sont considérés comme caractéristiques. Les derniers cas décrits dans la littérature remontent à 1999."},"de":{"name":"Wormsche Knochen-multiplen Frakturen-Dentinogenesis imperfecta-Skelettdysplasie-Syndrom","synonyms":["Suarez-Stickler-Syndrom"],"definition":"Eine seltene Skeletterkrankung, die klinisch durch multiple Frakturen, Wormsche Knochen des Schädels, Dentinogenesis imperfecta und Gesichtsdysmorphien (Hypertelorismus, füllige Periorbitalregion) gekennzeichnet ist. Obwohl die Anzeichen denen der Osteogenesis imperfecta sehr ähneln, gelten charakteristische kortikale Defekte in Abwesenheit von Osteopenie und Kollagenanomalien als Unterscheidungsmerkmal. Seit 1999 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Displasia esquelética con huesos wormianos-fracturas múltiples-dentinogénesis imperfecta","synonyms":["Síndrome de Suarez-Stickler"],"definition":"Es un trastorno esquelético caracterizado clínicamente por fracturas múltiples, huesos wormianos en cráneo, dentinogénesis imperfecta y dismorfia facial (hipertelorismo, párpados llenos). Aunque los signos son muy similares a los que presenta la osteogénesis imperfecta, la presencia de defectos corticales característicos en ausencia de osteopenia y de alteraciones del colágeno son característicos de este trastorno. No se han descrito más casos en la literatura desde 1999."},"it":{"name":"Displasia scheletrica con ossa wormiane - fratture multiple - dentinogenesi imperfetta","synonyms":["Sindrome di Suarez-Stickler"],"definition":"La displasia scheletrica con ossa wormiane-fratture multiple-dentinogenesi imperfetta è una malattia dello scheletro osservata in tre pazienti che presentavano fratture multiple, ossa wormiane sul cranio, dentinogenesi imperfetta e i dismorfismi facciali (ipertelorismo, pienezza periorbitale). A questi segni tipici dell'osteogenesi imperfetta si associavano altri segni caratteristici, come quelli corticali in assenza di osteopenia ed anomalie del collagene. Gli ultimi casi descritti risalgono al 1999."},"nl":{"name":"Wormiaanse botstructuren - meervoudige fracturen - dentinogenesis imperfecta - skeletdysplasie","synonyms":["Syndroom van Suarez-Stickler"],"definition":"Een zeldzame aandoening van skelet, klinisch gekenmerkt door multipele fracturen, Wormiaanse botstructuren van schedel, dentinogenesis imperfecta en faciale dysmorfie (hypertelorisme, periorbitale volheid). Hoewel de verschijnselen zeer gelijken op die van osteogenesis imperfecta, worden typische corticale defecten in afwezigheid van osteopenie en afwijkingen van collageen beschouwd als kenmerkend. Sinds 1999 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia esquelética com ossos vormianos-fraturas múltiplas-dentinogénese imperfeita","synonyms":["Síndrome Suarez-Stickler"]},"pl":{"name":"Zespół Suareza i Sticklera","synonyms":["Dysplazja szkieletowa z kostkami Worma - wielokrotne złamania-nieprawidłowości zębiny"],"definition":"Rzadkie schorzenie układu kostnego klinicznie charakteryzujące się licznymi złamaniami, obecnością kości śródszwowych (kości Worma) w czaszce, wrodzonym niedorozwojem zębin i dysmorfią twarzy (hiperteloryzm, obrzęk okołooczodołowy). Chociaż objawy są bardzo podobne do wrodzonej łamliwości kości, charakterystyczne defekty warstwy korowej kości przy braku osteopenii i nieprawidłowości kolagenu są cechą odróżniającą. Od 1999 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Kostní dysplázie s wormiánskými kůstkami, mnohočetnými zlomeninami a dentinogenesis imperfecta","synonyms":["Suarezův-Sticklerův syndrom","Suarez-Sticklerův syndrom"]},"uk":{"name":"Червоподібні кістки-множинні переломи-недосконалий дентиногенез - скелетна дисплазія","synonyms":["Синдром Суареса-Стиклера"],"definition":"A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999."},"zh":{"name":"Wormian 多发性骨折-牙本质发育不全-骨骼发育不良综合征","synonyms":["Suarez-Stickle综合征"],"definition":"骨骼发育不良伴沃姆氏骨-多发性骨折-牙本质发育不全是一种骨骼疾病，至今有3例患者报告，临床特征为多发性骨折、颅骨沃姆氏骨、牙本质发育不全和面部畸形(眼距过宽、眶周充盈)。虽然这些体征与成骨不全非常相似，但没有骨质减少和胶原异常的特征性皮质缺陷，因此二者被认为是不同的。自1999年以来，还未有更新的文献报道。"},"tr":{"name":"Solucan kemiği-çoklu kırıklar-dentinogenezis imperfekta-iskelet displazisi","synonyms":["Suarez-Stickler sendromu"]}},"xrefs":[{"source":"OMIM","code":"604922","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1814891078"},{"source":"MONDO","code":"0011501","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518794","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10290","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":180766,"name":"Malformative syndrome with dentinogenesis imperfecta","classifications":[147,156,197]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"10544232[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10544232[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011120","label":"Concave nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000703","label":"Dentinogenesis imperfecta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000629","label":"Periorbital fullness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001863","label":"Toe clinodactyly","frequency":"Occasional (29-5%)","criteria":null}]}}