{"orpha":284160,"name":"8q21.11 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(8)(q21.11)","Deletion 8q21.11","Monosomy 8q21.11"],"definition":"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284160/","orphanet_url":"https://www.orpha.net/en/disease/detail/284160","names":{"fr":{"name":"Syndrome de microdélétion 8q21.11","synonyms":["Del(8)(q21.11)","Délétion 8q21.11","Monosomie 8q21.11"],"definition":"Le syndrome de microdélétion 8q21.11 englobe les séquences de chevauchement avec microdélétions hétérozygotes sur le chromosome 8q21.11 entraînant déficit intellectuel, dysmorphie faciale comprenant visage rond, ptôse, philtrum court, arc de Cupidon et oreilles proéminentes et d'implantation basse, nasillement, doigts mous et anomalies des doigts de pied."},"de":{"name":"Mikrodeletionssyndrom 8q21.11","synonyms":["Del(8)(q21.11)","Deletion 8q21.11","Monosomie 8q21.11"],"definition":"Das 8q21.11-Mikrodeletions-Syndrom umfasst heterozygote überlappende Mikrodeletionen in der Chromosomenregion 8q21.11, die zu geistiger Behinderung, fazialen Dysmorphien (rundes Gesicht, Ptose, kurzes Philtrum, Amorbogen, abstehende tiefsitzende Ohren), nasaler Sprache und milden Finger- und Zehenanomalien führen."},"es":{"name":"Síndrome de microdeleción 8q21.11","synonyms":["Del(8)(q21.11)","Deleción 8q21.11","Monosomía 8q21.11"],"definition":"El síndrome de microdeleción 8q21.11 abarca microdeleciones heterocigotas superpuestas en el cromosoma 8q21.11 que dan lugar a discapacidad intelectual y a un dismorfismo facial que incluye una cara redonda, ptosis, filtrum corto, arco de Cupido marcado y orejas prominentes de implantación baja, habla nasal y anomalías leves en los dedos de manos y pies."},"it":{"name":"Sindrome da microdelezione 8q21.11","synonyms":["Del(8)(q21.11)","Delezione 8q21.11","Monosomia 8q21.11"],"definition":"La sindrome da microdelezione 8q21.11 comprende alcune delezioni eterozigoti, in parte sovrapposte, del cromosoma 8q21.11, che esitano in ritardo mentale, dismorfismi facciali, compreso il viso tondo, la ptosi, il filtro corto, l'arco di Cupido, le orecchie prominenti a basso impianto, la voce nasale e lievi anomalie delle dita delle mani e dei piedi."},"nl":{"name":"8q21.11-microdeletiesyndroom","synonyms":["Del(8)(q21.11)","Deletie 8q21.11","Monosomie 8q21.11"],"definition":"Een syndroom door heterozygote overlappende microdeleties van chromosoom 8q21.11, gekenmerkt door intellectuele achterstand, faciale dysmorfie met onder meer rond aangezicht, ptosis, kort filtrum, cupidoboog, en prominente en laagstaande oren, nasale spraak, en milde anomalieën van vingers en tenen."},"pt":{"name":"Síndrome de microdeleção 8q21.11"},"pl":{"name":"Zespół mikrodelecji 8q21.11","synonyms":["Del(8)(q21.11)","Delecja 8q21.11","Monosomia 8q21.11"]},"cs":{"name":"Mikrodeleční syndrom 8q21.11","synonyms":["Del(8)(q21.11)","Delece 8q21.11","Monozomie 8q21.11"]},"uk":{"name":"Синдром мікроделеції 8q21.11","synonyms":["Del(8)(q21.11)","Делеція 8q21.11","Моносомія 8q21.11"],"definition":"8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies."},"zh":{"name":"8q21.11微缺失综合征","synonyms":["8q21.11单体"],"definition":"8q21.11微缺失综合征包括染色体8q21.11上的杂合子重叠微缺失，导致智力残疾，面部畸形包括圆脸、上睑下垂、人中短、丘比特弓征和突出的低位耳、鼻音很重和轻度的指趾畸形。"},"tr":{"name":"8q21.11 mikrodelesyon sendromu","synonyms":["Del(8)(q21.11)","Delesyon 8q21.11","Monozomi 8q21.11"]}},"xrefs":[{"source":"OMIM","code":"614230","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.80","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"983679333"},{"source":"MONDO","code":"0013646","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305343","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":238766,"name":"Ptosis-syndactyly-learning difficulties syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262065,"name":"Partial deletion of the long arm of chromosome 8 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"21802062[PMID]_[EXPERT]"},{"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:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010489","label":"Absent palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null}]}}