{"orpha":251071,"name":"8p23.1 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(8)(p23.1)","Monosomy 8p23.1"],"definition":"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251071/","orphanet_url":"https://www.orpha.net/en/disease/detail/251071","names":{"fr":{"name":"Syndrome de microdélétion 8p23.1","synonyms":["Del(8)(p23.1)","Monosomie 8p23.1"],"definition":"Le syndrome de microdélétion 8p23.1 implique une délétion partielle du bras court du chromosome 8, conduisant à un faible poids à la naissance, un retard de croissance postnatale, un déficit intellectuel léger, une hyperactivité, des anomalies cranio-faciales et des malformations cardiaques congénitales."},"de":{"name":"Mikrodeletionssyndrom 8p23.1","synonyms":["Del(8)(p23.1)","Monosomie 8p23.1"],"definition":"Das 8p23.1-Deletions-Syndrom bezeichnet die Folgen einer partiellen Deletion des kurzen Arms des Chromosoms 8: Geringes Geburtsgewicht, verringertes postnatales Wachstum, leichte geistige Behinderung, Hyperaktivität, kraniofaziale Anomalien und angeborene Herzfehlern."},"es":{"name":"Síndrome de microdeleción 8p23.1","synonyms":["Del(8)(p23.1)","Monosomía 8p23.1"],"definition":"El síndrome de deleción 8p23.1 implica una deleción parcial del brazo corto del cromosoma 8 que da lugar a un peso bajo al nacer, déficit de crecimiento postnatal, déficit intelectual leve, hiperactividad, anomalías craneofaciales y defectos cardíacos congénitos."},"it":{"name":"Sindrome da microdelezione 8p23.1","synonyms":["Del(8)(p23.1)","Monosomia 8p23.1"]},"nl":{"name":"8p23.1-microdeletiesyndroom","synonyms":["Del(8)(p23.1)","Monosomie 8p23.1"],"definition":"8p23.1 microdeletiesyndroom is het gevolg van een gedeeltelijke deletie van de korte arm van chromosoom 8 en wordt gekenmerkt door een laag geboortegewicht, postnatale groeiachterstand, een milde intellectuele achterstand, hyperactiviteit, craniofaciale afwijkingen en aangeboren hartafwijkingen."},"pt":{"name":"Síndrome de microdeleção 8p23.1","synonyms":["Monossomia 8p23.1"]},"pl":{"name":"Zespół mikrodelecji 8p23.1","synonyms":["Del(8)(p23.1)","Monosomia 8p23.1"]},"cs":{"name":"Syndrom mikrodelece 8p23.1","synonyms":["Del(8)(p23.1)","Monozomie 8p23.1"]},"uk":{"name":"Синдром мікроделеції 8p23.1","synonyms":["Del(8)(p23.1)","Моносомія 8p23.1"],"definition":"8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects."},"zh":{"name":"染色体8p23.1微缺失综合征","synonyms":["8p23.1单体"],"definition":"8p23.1缺失涉及8号染色体短臂的部分缺失，其特征是出生体重低、出生后发育缺陷、轻度智力缺陷、多动症、颅面畸形和先天性心脏病。"},"tr":{"name":"8p23.1 mikrodelesyon sendromu","synonyms":["Del (8) (s23.1)","Monozomi 8p23.1"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.81","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"933685931"},{"source":"MONDO","code":"0016658","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537827","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931638","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3769","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261920,"name":"Partial deletion of the short arm of chromosome 8 syndrome","classifications":[147,156]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"GATA4","name":"GATA binding protein 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"10090897[PMID]_19606479[PMID]","hgnc":"4173","ensembl":"ENSG00000136574","omim":"600576","loci":["8p23.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}