{"orpha":2972,"name":"Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Stoelinga-de Koomen-Davis syndrome"],"definition":"Noneruption of teeth - maxillary hypoplasia - <i>genu valgum</i> is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe <i>genu valgum</i> and deformed ears.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2972/","orphanet_url":"https://www.orpha.net/en/disease/detail/2972","names":{"fr":{"name":"Syndrome de pseudoanodontie-hypoplasie maxillaire-genu valgum","synonyms":["Syndrome de Stoelinga-de Koomen-Davis"],"definition":"Le syndrome de pseudoanodontie-hypoplasie maxillaire-genu valgum est un syndrome extrêmement rare caractérisé par de nombreuses dents permanentes non éruptées, une hypoplasie du processus alvéolaire et de la région maxillo-zygomatique, une malformation des oreilles et un <i>genu valgum<i> sévère."},"de":{"name":"Fehlender Zahndurchbruch-Maxillahypoplasie-Genu valgum-Syndrom","synonyms":["Stoelinga-de-Koomen-Davis-Syndrom"],"definition":"Fehlender Zahndurchbruch mit Maxillahypoplasie und Genu valgum ist ein extrem seltenes Syndrom. Merkmale sind: Mehrere retinierte Zähne des Dauergebisses, Hypoplasie des Alveolarfortsatzes und der Maxilla-Jochbein-Region, schweres Genu valgum, malformierte Ohren."},"es":{"name":"Síndrome de fracaso de la erupción dentaria-hipoplasia maxilar-genu valgum","synonyms":["Síndrome de Stoelinga-de Koomen-Davis"],"definition":"La no erupción de los dientes con hipoplasia maxilar y <i>genu valgum</i> es un síndrome extremadamente raro que se caracteriza por la no erupción de múltiples dientes permanentes, hipoplasia del proceso alveolar y de la región máxilo-cigomática, <i>genu valgum</i> grave y orejas deformes."},"it":{"name":"Pseudoanodontia - ipoplasia mascellare - ginocchio valgo","synonyms":["Sindrome di Stoelinga-de Koomen-Davis"],"definition":"La mancata eruzione dei denti con ipoplasia mascellare e ginocchio valgo è una sindrome estremamente rara, caratterizzata da mancata eruzione di più denti permanenti, ipoplasia del processo alveolare e della regione maxillo-zigomatica, ginocchio valgo grave e malformazione dei padiglioni auricolari."},"nl":{"name":"Niet doorkomen van tanden - hypoplasie van maxilla - genu valgum-syndroom","synonyms":["Syndroom van Stoelinga-de Koomen-Davis"],"definition":"Niet doorbreken van de tanden - maxillaire hypoplasie - <i>genua valga</i> is een uiterst zeldzame syndroom dat wordt gekenmerkt door meerdere niet doorgebroken permanente tanden, hypoplasie van de alveolaire richel en de bovenkaak-jukbeenregio, ernstige <i>genua valga</i> en vervormde oren."},"pt":{"name":"Síndrome de dentes inclusos-hipoplasia maxilar-joelhos valgos","synonyms":["Síndrome Stoelinga-de Koomen-Davis"]},"pl":{"name":"Brak wyrzynania się zębów - hipoplazja szczęki - kolano koślawe","synonyms":["Zespół Stoelinga, de Koomena i Davisa"]},"cs":{"name":"Syndrom zahrnující neprořezání zubů, hypoplázii horní čelisti a genu valgum","synonyms":["Stoelingův-de Koomenův-Davisův syndrom","Stoelinga-de Koomen-Davisův syndrom"]},"uk":{"name":"Синдром відсутності прорізування зубів-гіпоплазії щелепно-лицевої ділянки-genu valgum","synonyms":["Синдром Столінга-де-Кумена-Девіса"],"definition":"Noneruption of teeth - maxillary hypoplasia - <i>genu valgum</i> is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe <i>genu valgum</i> and deformed ears."},"zh":{"name":"无牙齿萌出-上颌发育不良-膝外翻综合征","synonyms":["Stoelinga-de Koomen-Davis综合征"]},"tr":{"name":"Dişlerin çıkmaması- maksiller hipoplazi-genu valgum sendromu","synonyms":["Stoelinga-de Koomen-Davis sendromu"]}},"xrefs":[{"source":"OMIM","code":"273050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K07.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010104","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537496","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931509","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"975598[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006329","label":"Alveolar process hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005439","label":"Maxillozygomatic hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null}]}}