{"orpha":251046,"name":"6p22 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(6)(p22)","Monosomy 6p22"],"definition":"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251046/","orphanet_url":"https://www.orpha.net/en/disease/detail/251046","names":{"fr":{"name":"Syndrome de microdélétion 6p22","synonyms":["Del(6)(p22)","Monosomie 6p22"],"definition":"Le syndrome de microdélétion 6p22 est un syndrome récemment décrit associé à un phénotype variable caractérisé par un retard de développement, une dysmorphie faciale, un cou court et diverses malformations viscérales."},"de":{"name":"Mikrodeletionssyndrom 6p22","synonyms":["Del(6)(p22)","Monosomie 6p22"],"definition":"Das 6p22-Mikrodeletion-Syndrom manifestiert sich mit einem uneinheitlichen Phänotyp, zu dem verzögerte Entwicklung, faziale Dysmorphien, kurzer Hals und verschiedene Fehlbildungen zählen."},"es":{"name":"Síndrome de microdeleción 6p22","synonyms":["Del(6)(p22)","Monosomía 6p22"],"definition":"El síndrome de microdeleción 6p22 es un síndrome recientemente descrito asociado a un fenotipo variable caracterizado por retraso del desarrollo, dismorfismo facial, cuello corto y diversas malformaciones."},"it":{"name":"Sindrome da microdelezione 6p22","synonyms":["Del(6)(p22)","Monosomia 6p22"],"definition":"La sindrome da microdelezione 6p22 è una malattia, descritta di recente, associata a un fenotipo clinico variabile, che comprende il ritardo dello sviluppo, i dismorfismi facciali, il collo corto e varie malformazioni."},"nl":{"name":"6p22-microdeletiesyndroom","synonyms":["Del(6)(p22)","Monosomie 6p22"],"definition":"Een syndroom, gekenmerkt door een variabel klinisch fenotype met onder meer ontwikkelingsachterstand, faciale dysmorfie, korte hals, en diverse malformaties."},"pt":{"name":"Síndrome de microdeleção 6p22","synonyms":["Monossomia 6p22"],"definition":"A síndrome da microdeleção 6p22 é uma síndrome recentemente descrita associada a um fenótipo clínico variável, incluindo atraso no desenvolvimento, dismorfia facial, pescoço curto e diversas malformações."},"pl":{"name":"Zespół mikrodelecji 6p22","synonyms":["Del(6)(p22)","Monosomia 6p22"]},"cs":{"name":"Syndrom mikrodelece 6p22","synonyms":["Del(6)(p22)","Monozomie 6p22"]},"uk":{"name":"Синдром мікроделеції 6p22","synonyms":["Del(6)(p22)","Моносомія 6p22"],"definition":"6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations."},"zh":{"name":"染色体6p22微缺失综合征","synonyms":["6p22单体"],"definition":"6p22微缺失综合征是一种新发现的综合征，临床表现多样，包括发育迟缓、面部畸形、短颈和多种畸形。"},"tr":{"name":"6p22 mikrodelesyon sendromu","synonyms":["Del (6) (s22)","Monozomi 6p22"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1950285766"},{"source":"MONDO","code":"0016655","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304528","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261902,"name":"Partial deletion of the short arm of chromosome 6 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":19.0,"area":"Worldwide","status":"Validated","source":"23294540[PMID]"},{"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:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","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:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Occasional (29-5%)","criteria":null}]}}