{"orpha":251061,"name":"7q31 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(7)(q31)","Monosomy 7q31"],"definition":"7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251061/","orphanet_url":"https://www.orpha.net/en/disease/detail/251061","names":{"fr":{"name":"Syndrome de microdélétion 7q31","synonyms":["Del(7)(q31)","Monosomie 7q31"],"definition":"Anomalie chromosomique rare caractérisée par un retard de langage et de parole, se manifestant principalement par une apraxie de la parole, parfois associé à une dyspraxie verbale et motrice, une dysarthrie, des troubles du langage réceptif et expressif et une perte auditive. En cas de grandes délétions dans cette région, les patients présentent également une déficience intellectuelle et des troubles du spectre de l'autisme."},"de":{"name":"Mikrodeletionssyndrom 7q31","synonyms":["Del(7)(q31)","Monosomie 7q31"]},"es":{"name":"Síndrome de microdeleción 7q31","synonyms":["Del(7)(q31)","Monosomía 7q31"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por un trastorno del habla y del lenguaje, que se presenta predominantemente con apraxia del habla asociada, en ocasiones, a dispraxia motora oral, disartria, trastorno del lenguaje receptivo y expresivo, así como hipoacusia. Se ha descrito que los afectados con deleciones mayores en esta región pueden también mostrar discapacidad intelectual y autismo."},"it":{"name":"Sindrome da microdelezione 7q31","synonyms":["Del(7)(q31)","Monosomia 7q31"],"definition":"La sindrome da microdelezione 7q31 è un'anomalia cromosomica rara, caratterizzata da disturbi del linguaggio, che si manifesta prevalentemente come aprassia del linguaggio, occasionalmente associata a disprassia motoria orale, disartria, disturbi del linguaggio recettivo ed espressivo e sordità. I pazienti portatori di delezioni più ampie nella regione presentano anche disabilità intellettiva ed autismo."},"nl":{"name":"7q31-microdeletiesyndroom","synonyms":["Del(7)(q31)","Monosomie 7q31"],"definition":"7q31 microdeletiesyndroom is een zeldzame chromosomale anomalie, en wordt gekarakteriseerd door spraak- en taalstoornis die zich voornamelijk presenteert als spraakapraxie, en die soms geassocieerd is met orale motorische dyspraxie, dysartrie, receptieve en expressieve taalstoornis, en gehoorverlies. Er werd ook gerapporteerd dat individuen met grotere deleties in deze regio intellectuele achterstand en autisme vertonen."},"pt":{"name":"Síndrome de microdeleção 7q31","synonyms":["Monossomia 7q31"]},"pl":{"name":"Zespół mikrodelecji 7q31","synonyms":["Del(7)(q31)","Monosomia 7q31"]},"cs":{"name":"Syndrom mikrodelece 7q31","synonyms":["Del(7)(q31)","Monozomie 7q31"]},"uk":{"name":"Синдром мікроделеції 7q31","synonyms":["Del(7)(q31)","Моносомія 7q31"],"definition":"7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism."},"zh":{"name":"染色体7q31微缺失综合征","synonyms":["7q31单体"],"definition":"7q31微缺失综合征是一种罕见的染色体异常，以言语和语言障碍为特征，主要表现为言语失用，有时伴有口腔运动障碍、构音障碍、接受性和表达性语言障碍和听力损失。据报道，该区域缺失较多的个体也表现出智力障碍和自闭症。"},"tr":{"name":"7q31 mikrodelesyon sendromu","synonyms":["Del (7) (q31)","Monozomi 7q31"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1322851274"},{"source":"MONDO","code":"0016656","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750783","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262056,"name":"Partial deletion of the long arm of chromosome 7 syndrome","classifications":[147,156]},{"orpha":211053,"name":"Specific language disorder","classifications":[181]}],"children":[],"genes":[{"symbol":"FOXP2","name":"forkhead box P2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17330859[PMID]_22144704[PMID]","hgnc":"13875","ensembl":"ENSG00000128573","omim":"605317","loci":["7q31.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"27075776[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27075776[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-01-17","source":"22106036[PMID]_34490154[PMID]_35702019[PMID]_32885567[PMID]_30294678[PMID]_27075776[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410018","label":"Recurrent ear infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012146","label":"Abnormality of von Willebrand factor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011474","label":"Childhood onset sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040022","label":"Clinodactyly of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011388","label":"Enlarged cochlear aqueduct","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010677","label":"Enuresis nocturna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020045","label":"Esodeviation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012023","label":"Galactosuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008586","label":"Hypoplasia of the cochlea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040326","label":"Hypoplasia of the olfactory bulb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011382","label":"Hypoplasia of the semicircular canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011648","label":"Patent ductus arteriosus after birth at term","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001212","label":"Prominent fingertip pads","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012811","label":"Wide nasal ridge","frequency":"Occasional (29-5%)","criteria":null}]}}