{"orpha":96170,"name":"Emanuel syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Der(22)t(11;22) syndrome","Supernumerary der(22) syndrome"],"definition":"A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96170/","orphanet_url":"https://www.orpha.net/en/disease/detail/96170","names":{"fr":{"name":"Syndrome d'Emanuel","synonyms":["Chromosome supernuméraire der(22)"],"definition":"Trouble génomique constitutionnel dû à la présence d'un chromosome 22 surnuméraire dérivatif. Ce syndrome est caractérisé par une déficience intellectuelle sévère, une dysmorphie faciale caractéristique (une micrognathie, des paupières tombantes, des fentes palpébrales obliques en haut et en dehors, endophtalmie, une columela basse et tombante et un philtrum long), des malformations cardiaques congénitales et des anomalies rénales."},"de":{"name":"Emanuel-Syndrom","synonyms":["Supernumerary der(22)-Syndrom","der(22)t(11;22)-Syndrom"],"definition":"Eine konstitutionelle genomische Störung, die durch ein überzähliges Derivat-22-Chromosom verursacht wird. Die Symptome sind schwere Intelligenzminderung charakteristische faziale Dysmorphien (Mikrogenie, gekrümmte Augenlider, schräg nach oben Lidspalten, tiefliegende Augen, tief hängende Nasenscheidewand, langes Philtrum), angeborene Herzfehler und"},"es":{"name":"Síndrome de Emanuel","synonyms":["Síndrome del der(22) supernumerario","Síndrome der(22) supernumerario","Síndrome der(22)t(11;22)"],"definition":"Es un trastorno genómico constitucional debido a la presencia de un cromosoma 22 derivado supernumerario. Se caracteriza por una discapacidad intelectual grave, un dismorfismo facial característico (micrognatia, párpados con capucha, fisuras palpebrales inclinadas hacia arriba, ojos hundidos, columela de baja altura y largo surco nasolabial), defectos cardíacos congénitos y anomalías renales."},"it":{"name":"Sindrome di Emanuel","synonyms":["Sindrome del cromosoma der (22) t (11;22)","Sindrome del cromosoma der(22) sovrannumerario","Sindrome di der(22)t(11;22)"],"definition":"La sindrome di Emanuel è una malattia genomica costituzionale causata dalla presenza di un cromosoma sovrannumerario derivato dal cromosoma 22. È caratterizzata da grave disabilità cognitiva, dismorfismi facciali caratteristici (micrognatia, occhi socchiusi, rime palpebrali rivolte verso l'alto, occhi infossati, columella appiattita, filtro lungo), cardiopatie e anomalie renali."},"nl":{"name":"Syndroom van Emanuel","synonyms":["Surnumerair der(22) syndroom","der(22)t(11;22) syndroom"],"definition":"Een constitutionele genomische aandoening, te wijten aan aanwezigheid van surnumerair derivaat chromosoom 22, en gekenmerkt door ernstige intellectuele achterstand, typische faciale dysmorfie (micrognathie, hangende oogleden, schuin naar boven hellende ooglidspleten, diepliggende ogen, laaghangende columella, en lang filtrum), congenitale hartdefecten, en nieranomalieën."},"pt":{"name":"Síndrome Emanuel","synonyms":["Síndrome der(22) supranumerário","Síndrome der(22)t(11;22)"]},"pl":{"name":"Zespół Emanuela","synonyms":["Zespół nadliczbowego der(22)","Zespół Der(22)t(11;22)"]},"cs":{"name":"Syndrom Emanuelové","synonyms":["Der(22)t(11;22) syndrom","Syndrom nadpočetného der(22)"]},"uk":{"name":"Синдром Емануеля","synonyms":["Синдром Der(22)t(11;22)","Синдром надлишкового der(22)"],"definition":"A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities."},"zh":{"name":"Emanuel综合征","synonyms":["额外22号染色体综合征"],"definition":"Emanuel 综合征是一种由于存在额外的衍生22号染色体而导致的基因结构异常疾病，其特征是严重智力障碍、特征性面部畸形（小颌畸形、眼睑赘皮下垂、眼睑上斜下斜、眼球深陷、鼻小柱低垂、人中长）、先天性心脏缺陷和肾脏异常。"},"tr":{"name":"Emanuel sendromu","synonyms":["Der (22) t (11; 22) sendromu","Süpernümerari der (22) sendromu"]}},"xrefs":[{"source":"OMIM","code":"609029","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.Q","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1821612421"},{"source":"MONDO","code":"0012176","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836929","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9835","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079203","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263708,"name":"Complex chromosomal rearrangement syndrome","classifications":[147,156]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":350.0,"area":"Worldwide","status":"Validated","source":"26076791[PMID]_20301440[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26076791[PMID]_20301440[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-12","source":"19606488[PMID]_3720005[PMID]_10577913[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012802","label":"Broad jaw","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030820","label":"Hooded eyelid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002562","label":"Low-set nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005815","label":"Supernumerary ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal 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(29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}