{"orpha":1699,"name":"Trisomy 12p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication 12p"],"definition":"A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1699/","orphanet_url":"https://www.orpha.net/en/disease/detail/1699","names":{"fr":{"name":"Syndrome de trisomie 12p","synonyms":["Duplication 12p"],"definition":"Trisomie partielle des autosomes caractérisée par un retard psychomoteur, une déficience intellectuelle, une hypotonie généralisée, un retard de croissance postnatal, des anomalies cérébrales et cardiaques variables, ainsi que des traits dysmorphiques : bosse frontale, visage rond, joues pleines, implantation basse des oreilles, pont nasal plat, nez court et narines antéversées, philtrum long, vermillon fin de la lèvre supérieure et la lèvre inférieure épaisse et éversée. Des anomalies congénitales non spécifiques associées ont également été rapportées."},"de":{"name":"Trisomie 12p","synonyms":["Duplikation 12p"],"definition":"Die Trisomie 12p ist eine seltene autosomale Chromosomenaberration, die durch Entwicklungsverzögerung und Intelligenzminderung, generalisierte Hypotonie, postnatale Wachstumsretardierung, variable Hirn- und Herzanomalien und dysmorphe Merkmale gekennzeichnet ist, darunter Balkonstirn, rundes Gesicht, volle Wangen, tief angesetzte Ohren, breiter Nasenrücken, kurze Nase mit antevertierten Nasenlöchern, langes Philtrum, dünner Oberlippenvermillion und evertierte, dicke Unterlippe. Es wurde auch über unspezifische kongenitale Anomalien berichtet."},"es":{"name":"Síndrome de trisomía 12p","synonyms":["Duplicación 12p"],"definition":"Es una trisomía parcial autosómica caracterizada por retraso del desarrollo y discapacidad intelectual, hipotonía generalizada, retraso del crecimiento postnatal, anomalías cerebrales y cardíacas variables y rasgos dismórficos, incluyendo frente prominente, cara redondeada, mejillas prominentes, orejas de implantación baja, puente nasal ancho, nariz corta con narinas antevertidas, filtrum largo, bermellón del labio superior fino y labio inferior grueso y evertido. Esta enfermedad también se ha asociado a anomalías congénitas inespecíficas."},"it":{"name":"Sindrome trisomia 12p","synonyms":["Duplicazione 12p"],"definition":"È una trisomia parziale autosomica, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, ipotonia generalizzata, ritardo della crescita postnatale, anomalie cerebrali, cardiopatie e dismorfismi (fronte bombata, viso arrotondato, guance paffute, orecchie a basso impianto, sella nasale ampia, naso corto con narici anteverse, filtro lungo, porzione mucosa del labbro superiore sottile, labbro inferiore grosso). Può associarsi ad altre anomalie congenite aspecifiche."},"nl":{"name":"Trisomie 12p-syndroom","synonyms":["Duplicatie 12p"],"definition":"Een partiële autosomale trisomie die gekarakteriseerd wordt door ontwikkelingsachterstand en intellectuele achterstand, gegeneraliseerde hypotonie, postnatale groeiretardatie, variabele hersen- en hart anomalieën en dysmorfe kenmerken, waaronder boller voorhoofd, rond gelaat, volle wangen, laagstaande oren, brede neusbrug, korte neus met anteversie van de neusgaten, lang filtrum, dun vermiljoen van de bovenlip, en dikke en geëverteerde onderlip. Aspecifiek geassocieerde congenitale anomalieën werden ook reeds gerapporteerd."},"pt":{"name":"Trissomia 12p","synonyms":["Duplicação 12p","Trissomia 12p"]},"pl":{"name":"Zespół trisomii 12p","synonyms":["Duplikacja 12p"]},"cs":{"name":"Trizomie 12p","synonyms":["Duplikace 12p"]},"uk":{"name":"Трисомія 12р","synonyms":["Дуплікація 12p"],"definition":"A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported."},"zh":{"name":"12号染色体短臂三体","synonyms":["12号染色体短臂重复"]},"tr":{"name":"Trizomi 12p","synonyms":["Duplikasyon 12p"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.B1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"105981078"},{"source":"MONDO","code":"0015723","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538299","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795845","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5305","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262658,"name":"Partial duplication/triplication of the short arm of chromosome 12 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"16502429[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Worldwide","status":"Not yet validated","source":"8723118[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8723118[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008053","label":"Aplasia/Hypoplasia of the iris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null}]}}