{"orpha":261211,"name":"16p11.2p12.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(16)(p11.2p12.2)","Monosomy 16p11.2p12.2"],"definition":"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261211/","orphanet_url":"https://www.orpha.net/en/disease/detail/261211","names":{"fr":{"name":"Syndrome de microdélétion 16p11.2p12.2","synonyms":["Del(16)(p11.2p12.2)","Monosomie 16p11.2p12.2"],"definition":"Le syndrome de microdélétion 16p11.2-p12.2, récemment décrit, se caractérise par un retard du développement et une dysmorphie faciale."},"de":{"name":"Mikrodeletionssyndrom 16p11.2p12.2","synonyms":["Del(16)(p11.2p12.2)","Monosomie 16p11.2p12.2"],"definition":"Das kürzlich beschriebene 16p11.2-p12.2-Mikrodeletion-Syndrom ist gekennzeichnet durch verzögerte Entwicklung und faziale Dysmorphien."},"es":{"name":"Síndrome de microdeleción 16p11.2p12.2","synonyms":["Del(16)(p11.2p12.2)","Monosomía 16p11.2p12.2"],"definition":"El síndrome de microdeleción 16p11.2p12.2 es un síndrome recientemente descrito caracterizado por un retraso psicomotor y dismorfia facial."},"it":{"name":"Sindrome da microdelezione 16p11.2p12.2","synonyms":["Del(16)(p11.2p12.2)","Monosomia 16p11.2-p12.2","Monosomia 16p11.2p12.2","Sindrome da microdelezione 16p11.2-p12.2"],"definition":"La sindrome da microdelezione 16p11.2-p12.2, descritta di recente, è una malattia caratterizzata da ritardo dello sviluppo e dismorfismi facciali."},"nl":{"name":"16p11.2p12.2-microdeletiesyndroom","synonyms":["Del(16)(p11.2p12.2)","Monosomie 16p11.2p12.2"],"definition":"Een syndroom, gekenmerkt door ontwikkelingsachterstand en faciale dysmorfie."},"pt":{"name":"Síndrome de microdeleção 16p11.2p12.2","definition":"A síndrome de microdeleção 16p11.2-p12.2 é uma síndrome recentemente descrita, caracterizada por atraso no desenvolvimento e dismorfia facial."},"pl":{"name":"Zespół mikrodelecji 16p11.2p12.2","synonyms":["Del(16)(p11.2p12.2)","Monosomia 16p11.2p12.2","Monosomia 16p11.2-p12.2","Zespół mikrodelecji 16p11.2-p12.2"]},"cs":{"name":"Syndrom mikrodelece 16p11.2p12.2","synonyms":["Del(16)(p11.2p12.2)","Monozomie 16p11.2-p12.2","Monozomie 16p11.2p12.2","16p11.2-p12.2 mikrodeleční syndrom"]},"uk":{"name":"Синдром мікроделеції 16p11.2p12.2","synonyms":["Del(16)(p11.2p12.2)","Моносомія 16p11.2p12.2"],"definition":"16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism."},"zh":{"name":"染色体16p11.2p12.2微缺失综合征","synonyms":["16p11.2p12.2单体"],"definition":"16p11.2-p12.2微缺失综合征是近年来发现的一种以发育迟缓和面部畸形为特征的综合征。"},"tr":{"name":"16p11.2p12.2 mikrodelesyon sendromu","synonyms":["Del (16) (p11.2p12.2)","Monozomi 16p11.2p12.2"]}},"xrefs":[{"source":"OMIM","code":"613604","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.G1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1240878437"},{"source":"MONDO","code":"0013320","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304597","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261956,"name":"Partial deletion of the short arm of chromosome 16 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"24259393[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24259393[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"19676056[PMID]_12011165[PMID]","terms":[{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005285","label":"Absent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100033","label":"Tics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null}]}}