{"orpha":3344,"name":"Weismann-Netter syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Anterior bowing of legs with dwarfism","Toxopachyosteose diaphysaire tibio-peroniere","WNS","Weismann-Netter-Stuhl syndrome"],"definition":"Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3344/","orphanet_url":"https://www.orpha.net/en/disease/detail/3344","names":{"fr":{"name":"Syndrome de Weismann-Netter-Stuhl","synonyms":["Toxopachyostéose diaphysaire tibio-péronière","WNS"],"definition":"Une dysplasie génétique osseuse primaire et rare, avec incurvation des os. Elle se caractérise par la courbure diaphysaire antérieure du tibia et de la fibula, un élargissement de la fibula, un épaississement cortical postérieur des deux os, et une petite taille. Les anomalies squelettiques additionnelles incluent une scoliose avec une lordose lombaire prononcée, un sacrum horizontal et des ailes iliaques de forme carrée et/ou, plus rarement, des manifestations vertébrales, des clavicules et des côtes de forme anormale, une hyperostose calvariale, et un retard de l'éruption des dents permanentes. L'acquisition de la marche est souvent retardée."},"de":{"name":"Weismann-Netter-Syndrom","synonyms":["Anteriore Verkrümmung der Beine mit Kleinwuchs","Toxopachyostose, tibioperoneale diaphysäre","WNS","Weismann-Netter-Stuhl-Syndrom"],"definition":"Eine seltene, genetisch bedingte, primäre Dysplasie mit gekrümmten Knochen, die durch eine anteriore diaphysäre Verkrümmung der Tibia und Fibula, eine Verbreiterung der Fibula, eine posteriore kortikale Verdickung beider Knochen und eine kurze Statur gekennzeichnet ist. Weitere Skelettanomalien sind Skoliose mit ausgeprägter Lendenlordose, horizontalem Kreuzbein und quadratischen Darmbeinflügeln und/oder, seltener, Wirbelfehlbildungen, abnorme Form der Schlüsselbeine und Rippen, Kalvarialhyperostose und verzögerter Durchbruch der bleibenden Zähne. Auch eine Verzögerung der Entwicklung motorischer Fertigkeiten ist häufig assoziiert."},"es":{"name":"Síndrome de Weismann-Netter","synonyms":["Arqueamiento anterior de las piernas con enanismo","Síndrome de Weismann-Netter-Stuhl","Toxopaquiosteosis diafisaria tibioperonea","WNS"],"definition":"El síndrome de Weismann-Netter es una displasia esquelética genética, con huesos incurvados, poco frecuente. Se caracteriza por arqueamiento diafisario anterior de la tibia y el peroné, ensanchamiento del peroné, el engrosamiento cortical posterior de ambos huesos y estatura baja. Las anomalías esqueléticas adicionales incluyen: escoliosis con marcada lordosis lumbar, sacro horizontalizado y alas ilíacas cuadradas y/o, con menor frecuencia, malformaciones vertebrales, forma anómala de las clavículas y costillas, hiperostosis craneal y retraso en la erupción de los dientes permanentes.También se asocia frecuentemente retraso en la deambulación."},"it":{"name":"Sindrome di Weismann-Netter","synonyms":["Incurvamento anteriore delle gambe con nanismo","Sindrome di Weismann-Netter-Stuhl","WNS"],"definition":"La sindrome di Weismann-Netter è una displasia scheletrica genetica primitiva rara con incurvatura delle ossa. È caratterizzata dall'incurvamento diafisario anteriore della tibia e del perone, dall'allargamento del perone, dall'ispessimento corticale posteriore di entrambe le ossa e dalla bassa statura. Altre anomalie scheletriche sono la scoliosi associata alla marcata lordosi lombare, l'orizzontalizzazione del sacro e la squadratura delle iliache; più raramente sono presenti malformazioni vertebrali, dismorfismi delle clavicole e delle costole, iperostosi del calvario e ritardo nell'eruzione della dentizione permanente. Spesso la deambulazione è ritardata."},"nl":{"name":"Syndroom van Weismann-Netter","synonyms":["Anterieure kromming van benen met dwerggroei","Syndroom van Weismann-Netter-Stuhl","Toxopachyosteose diaphysaire tibio-peroniere","WNS"],"definition":"Syndroom van Weismann-Netter is een zeldzame, genetische, primaire, gebogen botdysplasie die gekarakteriseerd wordt door anterieure diafysaire buiging van het scheenbeen en het kuitbeen, verbreding van het kuitbeen, posterieure corticale verdikking van beide beenderen en een kleine gestalte. Bijkomende skeletafwijkingen zijn onder meer scoliose met duidelijke lumbale lordose, horizontaal sacrum (heiligbeen) en vierkante darmbeenderen en/of, minder frequent, malformaties van de wervels, abnormale vorm van de sleutelbeenderen en ribben, hyperostose van het schedeldak en verlaat uitkomen van de permanente tanden. Pas laat kunnen stappen is ook frequent geassocieerd."},"pt":{"name":"Síndrome Weismann-Netter","synonyms":["Encurvamento anterior das pernas com nanismo","Síndrome Weismann-Netter-Stuhl","Toxopaquiosteose diafisária tibio-peroneal","WNS"]},"pl":{"name":"Zespół Weismanna i Nettera","synonyms":["Anterior bowing of legs with dwarfism","Toxopachyosteose diaphysaire tibio-peroniere","WNS","Weismann-Netter-Stuhl syndrome"]},"cs":{"name":"Weismann-Netterův syndrom","synonyms":["Anterior bowing of legs with dwarfism","Toxopachyosteose diaphysaire tibio-peroniere","WNS","Weismann-Netter-Stuhl syndrome"]},"uk":{"name":"Синдром Вайсмана-Неттера","synonyms":["Переднє згинання ніг при карликовості","Токсопахіостеоїдний діафізарний тибіопероніт","Синдром Вайсмана-Неттера-Штуля","WNS"],"definition":"Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated."},"zh":{"name":"Weismann-Netter 综合征","synonyms":["腿前弓伴侏儒"]},"tr":{"name":"Weismann-Netter sendromu","synonyms":["WNS","Weismann-Netter-Stuhl sendromu","Cücelik ile seyreden bacakların öne eğilmesi"]}},"xrefs":[{"source":"OMIM","code":"112350","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.C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"180927608"},{"source":"MONDO","code":"0007209","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537082","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862172","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5232","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93439,"name":"Campomelic dysplasia and related disorders","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"19839038[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19839038[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010502","label":"Fibular bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003177","label":"Squared iliac bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null}]}}