{"orpha":238750,"name":"4q21 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(4)(q21)","Monosomy 4q21"],"definition":"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238750/","orphanet_url":"https://www.orpha.net/en/disease/detail/238750","names":{"fr":{"name":"Syndrome de microdélétion 4q21","synonyms":["Del(4)(q21)","Monosomie 4q21"],"definition":"La microdélétion 4q21 est un syndrome de description récente associant une dysmorphie faciale, un retard de croissance progressif, un déficit intellectuel sévère et une absence ou un retard important du langage."},"de":{"name":"Mikrodeletionssyndrom 4q21","synonyms":["Del(4)(q21)","Monosomie 4q21"]},"es":{"name":"Síndrome de microdeleción 4q21","synonyms":["Del(4)(q21)","Monosomía 4q21"],"definition":"El síndrome de microdeleción 4q21 es un síndrome asociado a dismorfia facial, restricción progresiva del crecimiento, déficit intelectual grave y habla ausente o grave retraso en la adquisición del habla."},"it":{"name":"Sindrome da microdelezione 4q21","synonyms":["Del(4)(q21)","Monosomia 4q21"]},"nl":{"name":"4q21-microdeletiesyndroom","synonyms":["Del(4)(q21)","Monosomie 4q21"],"definition":"Een syndroom, gekenmerkt door faciale dysmorfie, progressieve groeirestrictie, ernstige intellectuele achterstand, en afwezige of ernstig vertraagde spraak."},"pt":{"name":"Síndrome de microdeleção 4q21"},"pl":{"name":"Zespół mikrodelecji 4q21","synonyms":["Del(4)(q21)","Monosomia 4q21"]},"cs":{"name":"Mikrodeleční syndrom 4q21","synonyms":["Del(4)(q21)","Monozomie 4q21"]},"uk":{"name":"Синдром мікроделеції 4q21","synonyms":["Del(4)(q21)","Моносомія 4q21"],"definition":"The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech."},"zh":{"name":"染色体4q21微缺失综合征","synonyms":["4q21单体"],"definition":"4q21微缺失综合征是一种新报道的与面部畸形、进行性生长受限、严重智力缺陷和言语发育缺失或严重延迟有关的综合征。"},"tr":{"name":"4q21 mikrodelesyon sendromu","synonyms":["Del (4) (q21)","Monozomi 4q21"]}},"xrefs":[{"source":"OMIM","code":"613509","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1946764779"},{"source":"MONDO","code":"0013292","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304530","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262029,"name":"Partial deletion of the long arm of chromosome 4 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"20522426[PMID]_22903878[PMID]_21834054[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","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:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}