{"orpha":496751,"name":"EVEN-plus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-496751/","orphanet_url":"https://www.orpha.net/en/disease/detail/496751","names":{"fr":{"name":"Syndrome EVEN-plus","synonyms":["Syndrome de dysplasie épiphysaire-vertébrale-oreilles-nez avec caractéristiques associées"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une dysplasie épiphysaire et vertébrale et des malformations des oreilles externes (microtie ou anotie sévère) et du nez (une hypoplasie avec pointe de nez bifide, des narines antéversées, de forme triangulaire). Les autres signes cliniques sont inconstants, notamment, une petite taille, une aplasie cutis localisée, une hypodontie, la synophridie, une agénésie du corps calleux ainsi que des malformations cardiaques, gastro-intestinales et/ou urogénitales. Le développement psychomoteur peut être retardé."},"de":{"name":"EVEN plus-Syndrom","synonyms":["Epiphysen-Wirbelkörper-Ohren-Nasendysplasie-Syndrom mit weiteren Fehlbildungen"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom, das durch epiphysäre und vertebrale Dysplasie und Anomalien der äußeren Ohren (schwere Mikrotie oder Anotie) und der Nase (hypoplastische Nase mit bifider Spitze, dreieckigen Nasenlöchern oder antevertierten Nasenlöchern) gekennzeichnet ist. Weitere variable Befunde sind unter anderem Kleinwuchs, lokalisierte Aplasie der Kutis, Hypodontie, Synophrie, Agenesie des Corpus callosum und kardiale, gastrointestinale und/oder urogenitale Fehlbildungen. Die psychomotorische Entwicklung kann verzögert sein."},"es":{"name":"Síndrome EVEN-plus","synonyms":["Síndrome de displasia de epífisis-vertebras-oídos-nariz más hallazgos asociados"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por displasia epifisaria y vertebral y anomalías de los pabellones auriculares (microtia o anotia grave) y de la nariz (nariz hipoplásica con punta bífida, narinas triangulares o antevertidas). Otros hallazgos variables incluyen talla baja, aplasia cutánea localizada, hipodoncia, sinofridia, agenesia del cuerpo calloso y malformaciones cardíacas, gastrointestinales y/o urogenitales, entre otras. El desarrollo psicomotor puede retrasarse."},"it":{"name":"Sindrome EVEN-plus","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da displasia delle epifisi e delle vertebre, e da anomalie dell'orecchio esterno (microtia grave o anotia) e del naso (ipoplasia con punta bifida, narici triangolari o anteverse). I pazienti possono presentare anche bassa statura, aplasia localizzata della cute, ipodontia, sinofria, agenesia del corpo calloso, cardiopatie e malformazioni gastrointestinali e/o urogenitali. Può associarsi al ritardo dello sviluppo psicomotorio."},"nl":{"name":"EVEN-plus syndroom","synonyms":["Epifysaire-vertebrale-oor-neus dysplasie plus geassocieerde bevindingen-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door epifysaire en vertebrale dysplasie en afwijkingen van buitenoor (ernstige microtie of anotie) en neus (hypoplastische neus met bifide punt, driehoekige neusgaten, of anteversie van neusgaten). Bijkomende variabele bevindingen zijn onder meer kleine gestalte, gelokaliseerde aplasia cutis, hypodontie, synophrys, agenesie van corpus callosum, en cardiale, gastro-intestinale en/of urogenitale malformaties. Psychomotorische ontwikkelingsachterstand kan aanwezig zijn."},"pt":{"name":"Síndrome de EVEN-plus"},"pl":{"name":"Zespół EVEN-plus","synonyms":["Zespół dysplazji nasadowo-kręgosłupowo-usznej, płaskiego nosa plus/oraz towarzyszących wad"]},"cs":{"name":"EVEN-plus syndrom","synonyms":["Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome","Epifyzeální a vertebrální dysplázie, mikrocie, plochý nos a přidružené vady"]},"uk":{"name":"Синдром EVEN-plus","synonyms":["Синдром епіфізарно-вертебрально-вушна дисплазія та ніс-плюс асоційовані знахідки"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed."},"zh":{"name":"EVEN叠加综合征","synonyms":["骨骺-脊椎-耳发育不良-鼻-附加性相关病变综合征"]},"tr":{"name":"EVEN-plus sendromu","synonyms":["Epifiz-omur-kulak displazisi-burun artı ilişkili bulgular sendromu"]}},"xrefs":[{"source":"OMIM","code":"616854","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014801","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225180","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"HSPA9","name":"heat shock protein family A (Hsp70) member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26598328[PMID]_10424819[PMID]","hgnc":"5244","ensembl":"ENSG00000113013","omim":"600548","loci":["5q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26598328[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26598328[PMID]"}],"phenotypes":null}