{"orpha":96168,"name":"Monosomy 13q34 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(13)(q34)","Distal deletion 13q34","Subtelomeric deletion 13q34"],"definition":"Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96168/","orphanet_url":"https://www.orpha.net/en/disease/detail/96168","names":{"fr":{"name":"Syndrome de monosomie 13q34","synonyms":["Délétion subtélomérique 13q34","Del(13)(q34)","Délétion distale 13q34"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la délétion partielle du bras long du chromosome 13. Il se caractérise principalement par un retard de développement global, un léger déficit intellectuel, une obésité et une légère dysmorphie craniofaciale (microcéphalie, large front rectangulaire, fentes palpébrales obliques en bas et en dehors, léger ptosis, nez proéminent avec un long pont nasal et une large pointe, petit menton). Les autres signes variables rapportés incluent des anomalies cardiaques congénitales, des anomalies des mains et des pieds (comme une polydactylie) et une agénésie du corps calleux."},"de":{"name":"Monosomie 13q34","synonyms":["Del(13)(q34)","Deletion 13q34, distale","Subtelomere Deletion 13q34"],"definition":"Die Monosomenanomalie 13q34 ist eine seltene Chromosomenanomalie, die aus einer partiellen Deletion des langen Arms von Chromosom 13 resultiert und hauptsächlich durch eine globale Entwicklungsverzögerung, eine leichte Intelligenzminderung, Adipositas und eine leichte kraniofaziale Dysmorphie (Mikrozephalie, breite rechteckige Stirn, schräg abwärts verlaufende Lidspalten, leichte Ptosis, prominente Nase mit langem Nasenrücken und breiter Spitze, kleines Kinn) gekennzeichnet ist. Zu den weiteren variabel berichteten Merkmalen gehören angeborene Herzfehler, Hand- und Fußanomalien (z. B. Polydaktylie) und Agenesie des Corpus callosum."},"es":{"name":"Síndrome de monosomía 13q34","synonyms":["Del(13)(q34)","Deleción subtelomérica 13q34","Deleción terminal 13q34"],"definition":"Es una anomalía cromosómica poco frecuente resultante de la deleción parcial del brazo largo del cromosoma 13. Está caracterizada principalmente por un retraso del desarrollo global, leve discapacidad intelectual, obesidad y dismorfia craneofacial leve (microcefalia, frente rectangular ancha, fisuras palpebrales inclinadas hacia abajo, ptosis leve, nariz prominente con puente nasal largo y punta ancha, barbilla pequeña). Otras características variables descritas incluyen defectos cardíacos congénitos, anomalías de manos y pies (por ejemplo, polidactilia) y agenesia del cuerpo calloso."},"it":{"name":"Sindrome monosomia 13q34","synonyms":["Del(13)(q34)","Delezione 13q34 distale","Delezione 13q34 subtelomerica"],"definition":"La Monosomia 13q34 è un'anomalia cromosomica rara causata dalla delezione parziale del braccio lungo del cromosoma 13. È caratterizzata da ritardo dello sviluppo globale, lieve disabilità intellettiva, obesità e dismorfismi craniofacciali sfumati (microcefalia, ampia fronte rettangolare, rime palpebrali oblique verso il basso, lieve ptosi, naso prominente con sella lunga e punta ampia, mento piccolo). Altri segni clinici sono le cardiopatie congenite, le anomalie delle mani e dei piedi (polidattilia) e l'agenesia del corpo calloso."},"nl":{"name":"Monosomie 13q34-syndroom","synonyms":["Del(13)(q34)","Distale deletie 13q34","Subtelomerische deletie 13q34"],"definition":"Monosomie 13q34 is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële deletie van de lange arm van chromosoom 13, en wordt voornamelijk gekarakteriseerd door algemene ontwikkelingsachterstand, milde intellectuele achterstand, obesitas en milde craniofaciale dysmorfie (microcefalie, breed en rechthoekig voorhoofd, neerwaartse ooglidspleten, milde ptose, uitgesproken neus met lange neusbrug en brede neuspunt, en smalle kin). Andere wisselend gerapporteerde kenmerken zijn onder meer congenitale hartdefecten, hand- en voetanomalieën (e.g. polydactylie) en agenesie van het corpus callosum."},"pt":{"name":"Monossomia 13q34"},"pl":{"name":"Zespół delecji 13q34","synonyms":["Del(13)(q34)","Delecja dystalna 13q34","Delecja subtelomerowa 13q34"]},"cs":{"name":"Monozomie 13q34","synonyms":["Del(13)(q34)","Distální delece 13q34","Subtelometická delece 13q34"]},"uk":{"name":"Моносомія 13q34","synonyms":["Del(13)(q34)","Дистальна делеція 13q34","Субтеломерна делеція 13q34"],"definition":"Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum."},"zh":{"name":"13q34单体","synonyms":["13q34端粒缺失"],"definition":"13q34单体是一种罕见的染色体异常综合征，由13号染色体长臂部分缺失引起，主要表现为全面发育迟缓、轻度智力障碍、肥胖和轻度颅面畸形（小头畸形、宽矩形额头、下睑裂、轻度上睑下垂、下睑裂，鼻子突出，鼻梁长，鼻尖宽，下巴小）。报告的其他可变特征包括先天性心脏病、手足畸形（如多指畸形）和胼胝体发育不全。"},"tr":{"name":"Monozomi 13q34","synonyms":["Del (13) (q34)","Distal delesyon 13q34","Subtelomerik delesyon 13q34"]}},"xrefs":[{"source":"OMIM","code":"619148","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.D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"509345348"},{"source":"MONDO","code":"0019902","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707797","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":262101,"name":"Partial deletion of the long arm of chromosome 13 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-16","source":"27067448[PMID]_26012727[PMID]_26645620[PMID]_22847911[PMID]_21595000[PMID]_21199766[PMID]_19610112[PMID]_18162117[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","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:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011565","label":"Common atrium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010945","label":"Fetal pyelectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011228","label":"Horizontal eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100608","label":"Metrorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032152","label":"Keratosis pilaris","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040188","label":"Osteochondrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very rare (<4-1%)","criteria":null}]}}