{"orpha":280325,"name":"Distal deletion 12p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["12p13.33 microdeletion syndrome","Del(12)(p13.33)","Distal monosomy 12p"],"definition":"A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280325/","orphanet_url":"https://www.orpha.net/en/disease/detail/280325","names":{"fr":{"name":"Syndrome de délétion distale 12p","synonyms":["Del(12)(p13.33)","Monosomie distale 12p","Syndrome de microdélétion 12p13.33"],"definition":"Monosomie partielle rare des autosomes caractérisée par un retard de langage avec apraxie de la parole pendant l'enfance, une déficience intellectuelle légère, des troubles comportementaux (trouble du spectre de l'autisme, trouble déficitaire de l'attention avec hyperactivité, anxiété) et une légère dysmorphie non spécifique. D'autres caractéristiques cliniques peuvent inclure une hypotonie musculaire et une laxité articulaire, des hernies et une microcéphalie."},"de":{"name":"Distale Deletion 12p","synonyms":["Del(12)(p13.33)","Deletion 12p, distale","Distale Monosomie 12p","Mikrodeletionssyndrom 12p13.33"]},"es":{"name":"Síndrome de deleción terminal 12p","synonyms":["Del(12)(p13.33)","Monosomía terminal 12p","Síndrome de microdeleción 12p13.33"],"definition":"Es una monosomía autosómica parcial poco frecuente caracterizada por retraso en el desarrollo del lenguaje con apraxia del habla en edad infantil, leve discapacidad intelectual, anomalías conductuales (trastorno del espectro autista, trastorno por déficit de atención e hiperactividad, ansiedad) así como rasgos ligeramente dismórficos inespecíficos. Otros hallazgos clínicos adicionales pueden incluir hipotonía muscular y laxitud articular, hernias y microcefalia."},"it":{"name":"Sindrome delezione distale 12p","synonyms":["Del(12)(p13.33)","Monosomia distale 12p","Sindrome da microdelezione 12p13.33"],"definition":"La monosomia distale 12p è una monosomia autosomica parziale rara, caratterizzata da ritardo dell'acquisizione del linguaggio associato ad aprassia verbale infantile, disabilità intellettiva lieve, anomalie del comportamento (disturbo dello spettro autistico, deficit dell'attenzione con iperattività, ansia) e dismorfismi sfumati ed aspecifici. Possono associarsi ipotonia muscolare, lassità articolare, ernie e microcefalia."},"nl":{"name":"Distale deletie 12p-syndroom","synonyms":["12p13.33-microdeletiesyndroom","Del(12)(p13.33)","Distale monosomie 12p"],"definition":"Een zeldzame, partiële, autosomale monosomie, gekarakteriseerd door achterstand van taalontwikkeling met spraakapraxie in de kindertijd, milde intellectuele achterstand, gedragsanomalieën (autismespectrumstoornis, aandachtstekortstoornis met hyperactiviteit, angst) en milde dysmorfe, niet-specifieke kenmerken. Mogelijke bijkomende klinische kenmerken zijn onder meer musculaire hypotonie en gewrichtslaxiteit, hernia's en microcefalie."},"pt":{"name":"Deleção distal 12p","synonyms":["Del(12)(p13.33)","Monossomia distal 12p","Síndrome de microdeleção 12p13.33"]},"pl":{"name":"Zespół delecji dystalnej 12p","synonyms":["Del(12)(p13.33)","Delecja dystalna 12p","Zespół mikrodelecji 12p13.33","Delecja telomerowa 12p"]},"cs":{"name":"Distální monozomie 12p","synonyms":["Syndrom mikrodelece 12p13.33","Del(12)(p13.33)","Distální delece 12p"]},"uk":{"name":"Дистальна делеція 12p","synonyms":["Синдром мікроделеції 12p13.33","Del(12)(p13.33)","Дистальна моносомія 12p"],"definition":"A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly."},"zh":{"name":"12号染色体短臂远端单体","synonyms":["12p13.33微缺失综合征"],"definition":"12p远端常染色单体是一种罕见的常染色体部分单体，其特征是语言发育延迟，伴有儿童言语失用、轻度智力障碍、行为异常（自闭症谱系障碍、注意力缺陷多动障碍、焦虑症）和轻度非特异性畸形。其他临床特征可能包括肌张力减退和关节松弛、疝气和小头畸形。"},"tr":{"name":"Distal monozomi 12p","synonyms":["Del(12)(p13.33)","Distal delesyon 12p","12p13.33 mikrodelesyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017229","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749581","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":316244,"name":"Partial deletion of the short arm of chromosome 12 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"ERC1","name":"ELKS/RAB6-interacting/CAST family member 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22713806[PMID]","hgnc":"17072","ensembl":"ENSG00000082805","omim":"607127","loci":["12p13.33"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"21144913[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}