{"orpha":2633,"name":"Mesomelic dysplasia, Nievergelt type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mesomelic dwarfism, Nievergelt type","Nievergelt syndrome"],"definition":"A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2633/","orphanet_url":"https://www.orpha.net/en/disease/detail/2633","names":{"fr":{"name":"Dysplasie mésomélique type Nievergelt","synonyms":["Nanisme mésomélique type Nievergelt","Syndrome de Nievergelt"],"definition":"Dysplasie osseuse primaire rare, caractérisée par une insuffisance mésomélique sévère, en particulier des membres inférieurs, des tibias et des fibules caractéristiques de forme triangulaire ou rhomboïde, ainsi que des protubérances osseuses et des fossettes cutanées. Parmi les autres manifestations, on peut citer une synostose radio-ulnaire, une dislocation de la tête radiale, des malformations des mains (oligosyndactylie ou doigts fusiformes) et des pieds (pied bot varus équin, synostoses des tarses/métatarses et des phalanges), et une dysmorphie faciale."},"de":{"name":"Dysplasie, mesomele, Typ Nievergelt","synonyms":["Kleinwuchs, mesomeler, Typ Nievergelt","Nievergelt-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie, die durch eine schwere Mesomelie, insbesondere der unteren Gliedmaßen, mit ausgeprägten dreieckigen oder rhomboiden Tibiae und Fibulae, begleitet von Knochenvorsprüngen und Hautgrübchen, gekennzeichnet ist. Weitere Manifestationen sind Radioulnarsynostose, Dislokation des Radiusköpfchens, Anomalien der Hände (z. B. Oligosyndaktylie oder fusiforme Finger) und Füße (Pes equinovarus, Synostosen der Fußwurzel/Metatarsale und Phalangen) sowie Gesichtsdysmorphien."},"es":{"name":"Displasia mesomélica tipo Nievergelt","synonyms":["Enanismo mesomélico tipo Nievergelt","Síndrome de Nievergelt"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por un grave acortamiento mesomélico, especialmente de las extremidades inferiores, con tíbias y peronés triangulares o romboides distintivos, acompañado de protuberancias óseas y hoyuelos cutáneos. Otras manifestaciones adicionales incluyen sinostosis radiocubital, luxación de la cabeza radial, anomalías de las manos (tales como oligosindactilia o dedos fusiformes) y de los pies (pie zambo, sinostosis del tarso/ metatarso y falanges) y rasgos faciales dismórficos."},"it":{"name":"Nanismo mesomelico, tipo Nievergelt","synonyms":["Sindrome di Nievergelt"],"definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da accorciamento mesomelico grave, in particolare degli arti inferiori, con tibie e peroni dalla caratteristica forma triangolare o romboidale, associato a protuberanze ossee e fossette cutanee. I pazienti possono presentare anche sinostosi radioulnare, dislocazione della testa del radio, anomalie delle mani (oligosindattilia o dita fusiformi) e dei piedi (piede equino-varo, sinostosi del tarso/metatarso e delle falangi) e dismorfismi facciali."},"nl":{"name":"Mesomele dysplasie, Nievergelt-type","synonyms":["Mesomele dwerggroei, Nievergelt-type","Syndroom van Nievergelt"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door ernstige mesomele verkorting van voornamelijk onderste ledematen, met kenmerkende driehoekige of ruitvormige kuit- en scheenbeenderen, vergezeld van benige uitsteeksels en kuiltjes van huid. Bijkomende manifestaties zijn onder meer radio-ulnaire synostose, luxatie van radiuskop, afwijkingen van handen (zoals oligosyndactylie of fusiforme vingers) en voeten (pes equinovarus (klompvoet), synostose van tarsalen/metatarsalen en falangen), en dysmorfe gelaatskenmerken."},"pt":{"name":"Nanismo mesomélico, tipo Nievergelt","synonyms":["Síndrome Nievergelt"]},"pl":{"name":"Niskorosłość mezomeliczna typu Nievergelta","synonyms":["Zespół Nievergelta"]},"cs":{"name":"Mezomelické trpaslictví, Nievergeltův typ","synonyms":["Nievergeltův syndrom"]},"uk":{"name":"Мезомелічна дисплазія, тип Нівергельта","synonyms":["Мезомелічна карликовість, тип Нівергельта","Синдром Нівергельта"],"definition":"A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features."},"zh":{"name":"肢中部发育不良，Nievergelt型","synonyms":["肢中骨发育不良，Nievergelt型"]},"tr":{"name":"Mezomelik displazi, Nievergelt tipi","synonyms":["Nievergelt sendromu","Mezomelik cücelik, Nievergelt tipi"]}},"xrefs":[{"source":"OMIM","code":"163400","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.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2034257092"},{"source":"MONDO","code":"0008098","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536120","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432231","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3554","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":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"29245094[PMID]_11977180[PMID]_6059604[PMID]_39035397[PMID]_18085094[PMID]_675214[PMID]_2717950[PMID]_17702012[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29245094[PMID]_11977180[PMID]_6059604[PMID]_39035397[PMID]_18085094[PMID]_675214[PMID]_2717950[PMID]_17702012[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008845","label":"Mesomelic short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}