{"orpha":313884,"name":"12p12.1 microdeletion syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Del(12)(p12.1)","Monosomy 12p12.1"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313884/","orphanet_url":"https://www.orpha.net/en/disease/detail/313884","names":{"fr":{"name":"Syndrome de microdélétion 12p12.1","synonyms":["Del(12)(p12.1)","Monosomie 12p12.1"],"definition":"Syndrome d'anomalie chromosomique rare résultant d'une délétion partielle du bras court du chromosome 12, caractérisé par une déficience intellectuelle, un retard de développement global avec troubles importants du langage, des troubles du comportement et une légère dysmorphie faciale (front proéminent, fentes palpébrales inclinées vers le bas, épicanthus, pont nasal large et déprimé avec une pointe de nez bulbeuse, oreilles d'implantation basse avec des hélix insuffisamment développées). Les autres manifestations associées peuvent comprendre des anomalies squelettiques (vertèbres en ailes de papillon, scoliose), un strabisme, une hypoplasie du nerf optique et des malformations cérébrales."},"de":{"name":"Mikrodeletionssyndrom 12p12.1","synonyms":["Del(12)(p12.1)","Monosomie 12p12.1"]},"es":{"name":"Síndrome de microdeleción 12p12.1","synonyms":["Del(12)(p12.1)","Monosomía 12p12.1"],"definition":"El síndrome de microdeleción 12p12.1, es un síndrome de anomalías cromosómicas poco frecuente, resultante de la deleción parcial del brazo corto del cromosoma 12, caracterizado por discapacidad intelectual, retraso global del desarrollo con trastorno destacado del lenguaje, anomalías conductuales y dismorfia facial leve (incluyendo frente prominente, fisuras palpebrales inclinadas hacia abajo, pliegues epicánticos, puente nasal ancho y deprimido con punta nasal bulbosa, orejas de implantación baja con hélix poco desarrolladas). Otras características asociadas pueden incluir anomalías esqueléticas (vértebras en mariposa, escoliosis), estrabismo, hipoplasia del nervio óptico y malformaciones cerebrales."},"it":{"name":"Sindrome da microdelezione 12p12.1","synonyms":["Del(12)(p12.1)","Monosomia 12p12.1"],"definition":"La sindrome da microdelezione 12p12.1 è un'anomalia cromosomica rara, causata dalla delezione parziale del braccio corto del cromosoma 12, caratterizzata da disabilità intellettiva, ritardo dello sviluppo globale con marcato deficit del linguaggio, anomalie del comportamento e dismorfismi facciali sfumati (fronte bombata, rime palpebrali oblique verso il basso, epicanto, sella nasale ampia e infossata, punta del naso globosa, orecchie a basso impianto con elici iposviluppati). I pazienti possono presentare anche anomalie scheletriche (vertebre a farfalla, scoliosi), strabismo, ipoplasia del nervo ottico e malformazioni cerebrali."},"nl":{"name":"12p12.1-microdeletiesyndroom","synonyms":["Del(12)(p12.1)","Monosomie 12p12.1"],"definition":"12p12.1 microdeletiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de korte arm van chromosoom 12, en wordt gekarakteriseerd door intellectuele achterstand, algehele ontwikkelingsachterstand met uitgesproken taalstoornis, gedragsafwijkingen, en milde faciale dysmorfie (inclusief boller voorhoofd, schuin naar beneden hellende ooglidspleten, epicanthusplooien, brede en ingezakte neusbrug met bolle neuspunt, laagstaande oren met onderontwikkelde helices). Andere kenmerken die mogelijk zijn geassocieerd, zijn onder meer skeletafwijkingen (vlinderwervels, scoliose), strabisme, hypoplasie van de oogzenuw, en hersenmalformaties."},"pt":{"name":"Síndrome de microdeleção 12p12.1","synonyms":["Del(12)(p12.1)","Monossomia 12p12.1"]},"pl":{"name":"Zespół mikrodelecji 12p12.1","synonyms":["Del(12)(p12.1)","Monosomia 12p12.1"],"definition":"*Zespół mikrodelecji 12p12.1 to rzadka aberracja chromosomowa, spowodowana częściową delecją krótkiego ramienia chromosomu 12. Charakteryzuje się niepełnosprawnością intelektualną, całościowym opóźnieniem rozwoju z wyraźnymi zaburzeniami mowy, zaburzeniami zachowania i łagodną dysmorfią twarzy (wydatne czoło, ustawione skośnie ku dołowi szpary powiekowe, zmarszczka nakątna, szeroki, zapadnięty grzbiet nosa z bulwiastym czubkiem nosa, nisko osadzone uszy z słabo ukształtowanymi obrąbkami). Inne towarzyszące objawy mogą obejmować wady kostne (kręgi motyle, skolioza), zez, niedorozwój nerwu wzrokowego i wady rozwojowe mózgu."},"cs":{"name":"Mikrodeleční syndrom 12p12.1","synonyms":["Del(12)(p12.1)","Monozomie 12p12.1"]},"uk":{"name":"Синдром мікроделеції 12p12.1","synonyms":["Del(12)(p12.1)","Моносомія 12p12.1"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations."},"zh":{"name":"12p12.1微缺失综合征","synonyms":["12p12.1单体"],"definition":"12p12.1微缺失综合征是一种罕见的染色体异常综合征，是由12号染色体短臂部分缺失引起的，其特征是智力障碍、以语言障碍为主的整体发育迟缓、行为异常和轻度面部畸形（包括额部隆起、眼睑裂下倾，内眦皱襞，鼻梁宽而凹陷，鼻尖呈球状，耳廓低垂伴螺旋发育不全）。其他相关特征可能包括骨骼异常（蝶形椎骨、脊柱侧凸）、斜视、视神经发育不良和脑畸形。"},"tr":{"name":"12p12.1 mikrodelesyon sendromu","synonyms":["Del(12)(p12.1)","Monozomi 12p12.1"]}},"xrefs":[{"source":"OMIM","code":"616803","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017781","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755260","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":530983,"name":"Lamb-Shaffer syndrome","classifications":[147,156,181]},{"orpha":316244,"name":"Partial deletion of the short arm of chromosome 12 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"SOX5","name":"SRY-box transcription factor 5","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22290657[PMID]","hgnc":"11201","ensembl":"ENSG00000134532","omim":"604975","loci":["12p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"22290657[PMID]_29477873[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29477873[PMID]"}],"phenotypes":null}