{"orpha":3098,"name":"Rhizomelic syndrome, Urbach type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies including short stature, dislocated hips and bifid distal phalanx of the thumb. Craniofacial features include microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia and short neck. Pulmonary stenosis, delayed psychomotor development and mild flexion contractures of the elbows have also been reported. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3098/","orphanet_url":"https://www.orpha.net/en/disease/detail/3098","names":{"fr":{"name":"Syndrome rhizomélique type Urbach","definition":"Dysplasie osseuse primaire rare caractérisée par une rhizomélie des membres supérieurs et d'autres anomalies squelettiques, notamment une petite taille, une luxation des hanches et un pouce avec phalange distale bifide. Les anomalies craniofaciales comprennent une microcéphalie, une grande fontanelle antérieure, des cheveux fins et clairsemés, un pont nasal déprimé, un palais ogival, une micrognathie et un cou court. Une sténose pulmonaire, un retard de développement psychomoteur et de légères contractures en flexion des coudes ont également été décrits. Aucun nouveau cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Rhizomeles Syndrom Typ Urbach","definition":"Eine seltene primäre Knochendysplasie, die durch Rhizomelie der oberen Extremitäten und andere Skelettanomalien wie Kleinwuchs, Hüftluxation und gespaltene distale Phalanx des Daumens gekennzeichnet ist. Zu den kraniofazialen Merkmalen zählen Mikrozephalie, große vordere Fontanelle, feines und spärliches Kopfhaar, flache Nasenwurzel, hoher Gaumenbogen, Mikrognathie und kurzer Hals. Pulmonalstenose, verzögerte psychomotorische Entwicklung und leichte Beugekontrakturen der Ellenbogen wurden ebenfalls berichtet. Seit 1987 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome rizomélico tipo Urbach","definition":"Es una displasia ósea primaria poco frecuente caracterizada por un acortamiento rizomélico de las extremidades superiores y otras anomalías esqueléticas, como talla baja, luxación de cadera y falange distal bífida del pulgar. Las características craneofaciales incluyen microcefalia, ensanchamiento de la fontanela anterior, cabello fino y escaso, puente nasal deprimido, paladar ojival, micrognatia y cuello corto. También se han descrito estenosis pulmonar, retraso en el desarrollo psicomotor y contracturas leves en flexión de los codos. No se han descrito más casos en la literatura desde 1987."},"it":{"name":"Sindrome rizomelica, tipo Urbach","definition":"La sindrome rizomelica tipo Urbach è una displasia scheletrica primitiva rara, caratterizzata da rizomelia degli arti superiori ed altre anomalie scheletriche (bassa statura, dislocazione delle anche, pollici trifalangei con falange ditale bifida), dismorfismi craniofacciali (microcefalia, fontanella anteriore ampia, capelli sottili e radi, sella nasale infossata, palato ogivale, micrognazia, collo corto), cardiopatie congenite (ad esempio, stesosi polmonare), ritardo dello sviluppo psicomotorio e lievi contratture in flessione dei gomiti. Le radiografie evidenziano epifisi svasate, platispondilia e/o anomalie delle dita."},"nl":{"name":"Rhizomeel syndroom, Urbach-type","definition":"Een zeldzame primaire botdysplasie, gekenmerkt door rhizomelie van bovenste ledematen en skeletanomalieën, waaronder kleine gestalte, heupluxatie en bifide distale falanx van de duim. Craniofaciale kenmerken zijn onder meer microcefalie, groot voorste fontanel, fijn en schaars hoofdhaar, ingezakte neusbrug, hoog gebogen gehemelte, micrognathie en korte hals. Pulmonalisklepstenose, psychomotorische ontwikkelingsachterstand en milde flexiecontracturen van de ellebogen werden ook reeds gerapporteerd. Sinds 1987 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome rizomélico, tipo Urbach"},"pl":{"name":"Zespół rizomeliczny, typu Urbacha","definition":"*Zespół rizomeliczny typu Urbacha, jest rzadką, pierwotną dysplazją kostną, która charakteryzuje się skrócenie proksymalnych odcinków kończyn górnych i innymi anomaliami szkieletowymi (np. niski wzrost, zwichnięcie stawów biodrowych, nieprawidłowy kciuk z rozszczepem dystalnego paliczka), dysmorfią twarzoczaszki (np. małogłowie, duże ciemię przednie, delikatne i rzadkie owłosienie głowy, zapadnięty grzbiet nosa, wysokie podniebienie, małożuchwie, krótka szyja), wrodzonymi wadami serca (np. zwężenie tętnicy płucnej), opóźnionym rozwojem psychoruchowym i łagodnymi przykurczami łokci. W badaniu radiologicznym można zaobserwować poszerzone nasady, płaskie kręgi i/lub wady palców."},"cs":{"name":"Rhizomelický syndrom, Urbachův typ"},"uk":{"name":"Ризомелічний синдром, тип Урбаха","definition":"Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies."},"zh":{"name":"Rhizomelic综合征, Urbach亚型"},"tr":{"name":"Rizomelik sendrom, Urbach tipi"}},"xrefs":[{"source":"OMIM","code":"268250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009996","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537611","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749613","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3948431[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3591839[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null}]}}