{"orpha":178303,"name":"8q22.1 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Monosomy 8q22.1","Nablus mask-like facial syndrome"],"definition":"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178303/","orphanet_url":"https://www.orpha.net/en/disease/detail/178303","names":{"fr":{"name":"Microdélétion 8q22.1","synonyms":["Monosomie 8q22.1","Syndrome \"Nablus mask-like facial\""],"definition":"La microdélétion 8q22.1 ou 'Nablus mask-like facial syndrome' est un syndrome très rare associé à une dysmorphie faciale très caractéristique."},"de":{"name":"Nablus mask-like facial-Syndrom","synonyms":["Mikrodeletionssyndrom 8q22.1","Monosomie 8q22.1"]},"es":{"name":"Síndrome de microdeleción 8q22.1","synonyms":["Monosomía 8q22.1","Sindrome facial similar a 'máscara de Nablus'"],"definition":"El síndrome de microdeleción 8q22.1 o síndrome de facies en máscara de Nablus es un síndrome de microdeleción poco frecuente asociado con una apariencia facial distintiva ."},"it":{"name":"Sindrome da microdelezione 8q22.1","synonyms":["Monosomia 8q22.1","Sindrome maschera facciale di Nablus-simile"]},"nl":{"name":"8q22.1-microdeletiesyndroom","synonyms":["Monosomie 8q22.1","Nablus masker-achtig faciaal syndroom"],"definition":"Een zeldzaam microdeletiesyndroom, gekenmerkt door een typisch uiterlijk van het aangezicht."},"pt":{"name":"Síndrome de microdeleção 8q22.1","synonyms":["Síndrome máscara facial de Nablus-like"]},"pl":{"name":"Zespół mikrodelecji 8q22.1","synonyms":["Monosomia 8q22.1","Zespół Nablus z maskowatą twarzą"]},"cs":{"name":"Mikrodeleční syndrom 8q22.1","synonyms":["Monozomie 8q22.1","Nábuluský syndrom škraboškovitého obličeje"]},"uk":{"name":"Синдром мікроделеції 8q22.1","synonyms":["Моносомія 8q22.1","Синдром обличчя, схожего на маску Наблуса"],"definition":"The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance."},"zh":{"name":"8q22.1微缺失综合征","synonyms":["Nablus面具样面部综合征"],"definition":"8q22.1微缺失综合征又称Nablus面具样面部综合征，是一种罕见的微缺失综合征，与特殊面容有关。"},"tr":{"name":"8q22.1 mikrodelesyon sendromu","synonyms":["Monozomi 8q22.1","Nablus maske benzeri fasiyal sendrom"]}},"xrefs":[{"source":"OMIM","code":"608156","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":"115857702"},{"source":"MONDO","code":"0011977","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536110","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842464","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4722","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":262065,"name":"Partial deletion of the long arm of chromosome 8 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":6.0,"area":"Worldwide","status":"Validated","source":"22821852[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:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100024","label":"Conspicuously happy disposition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008577","label":"Underfolded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005288","label":"Abnormality of the nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Occasional (29-5%)","criteria":null}]}}