{"orpha":1702,"name":"Non-distal duplication 13q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Non-distal trisomy 13q","Non-telomeric trisomy 13q"],"definition":"Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1702/","orphanet_url":"https://www.orpha.net/en/disease/detail/1702","names":{"fr":{"name":"Syndrome de duplication non distale 13q","synonyms":["Délétion non télomérique 13q","Trisomie non distale 13q","Trisomie non télomérique 13q"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras long proximal du chromosome 13. Le phénotype est très variable, et se caractérise principalement par une augmentation des projections leucocytaires polymorphonucléaires et la persistance d'hémoglobine foetale, un retard de croissance et de développement, et une dysmorphie craniofaciale (incluant une microcéphalie, un pont nasal déprimé, un nez trapu, des oreilles malformées, implantées basses, une fente labiale/palatine, une micrognathie). Un strabisme, une clinodactylie et des testicules non descendus chez les patients masculins peuvent aussi être associés."},"de":{"name":"Nicht-distale Duplikation 13q","synonyms":["Nicht-distale Trisomie 13q","Nicht-telomere Trisomie 13q"],"definition":"Eine seltene Chromosomenanomalie, die durch eine partielle Duplikation des proximalen langen Arms von Chromosom 13 verursacht wird. Der Phänotyp ist sehr variabel und zeichnet sich vor allem durch erhöhte Werte neutrophiler Granulozyten und Persistenz von fetalem Hämoglobin, Wachstums- und Entwicklungsverzögerung sowie kraniofaziale Dysmorphien (einschließlich Mikrozephalie, abgesenkter Nasenrücken, Stupsnase, fehlgebildete, tief angesetzte Ohren, Lippen-Gaumenspalte, Mikrognathie) aus. Schielen, Klinodaktylie und nicht herabgestiegene Hoden bei männlichen Patienten können ebenfalls assoziiert sein."},"es":{"name":"Síndrome de duplicación intersticial 13q","synonyms":["Trisomía intersticial 13q","Trisomía no terminal 13q"],"definition":"La trisomía 13q no distal es una anomalía cromosómica poco frecuente, que resulta de la duplicación parcial del segmento proximal del brazo largo del cromosoma 13, con un fenotipo altamente variable caracterizado principalmente por un aumento de las proyecciones de los leucocitos polimorfonucleares y la persistencia de la hemoglobina fetal, así como retraso del crecimiento y desarrollo y dismorfia craneofacial (incl. microcefalia, puente nasal hundido, nariz carnosa, orejas malformadas de baja implantación, labio leporino/ paladar hendido, micrognatia). También se pueden asociar estrabismo, clinodactilia y testículos no descendidos (criptorquidia) en varones."},"it":{"name":"Sindrome duplicazione 13q non distale","synonyms":["Trisomia 13q non distale","Trisomia 13q non telomerica"],"definition":"La trisomia 13q non-distale è un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio lungo prossimale del cromosoma 13; il quadro clinico è molto variabile ed è caratterizzato prevalentemente da un aumento delle proiezioni nucleari nei leucociti polimorfonucleati, dalla persistenza dell'emoglobina fetale, dal ritardo della crescita e dello sviluppo e da dismorfismi craniofacciali (microcefalia, sella nasale infossata, naso tozzo, orecchie malformate e a basso impianto, labio/palatoschisi, micrognazia). I pazienti possono presentare strabismo, clinodattilia e, nei maschi, criptorchidismo."},"nl":{"name":"Niet-distale duplicatie 13q-syndroom","synonyms":["Niet-distale trisomie 13q","Niet-telomerische trisomie 13q"],"definition":"Niet-distale trisomie 13q is een zeldzame chromosomale anomalie als gevolg van een partiële duplicatie van de proximale lange arm van chromosoom 13, met een hoogst variabel fenotype dat voornamelijk gekarakteriseerd wordt door toegenomen uitsteeksels van polymorfonucleaire leukocyten en persistentie van foetaal hemoglobine, alsook groei- en ontwikkelingsachterstand en craniofaciale dysmorfie (incl. microcefalie, ingedrukte neusbrug, stompe neus, laagstaande en misvormde oren, gespleten lip/verhemelte, micrognathie). Strabisme, clinodactylie en niet-ingedaalde teelballen bij mannen kunnen ook geassocieerd zijn."},"pt":{"name":"Duplicação não-distal 13q","synonyms":["Trissomia não-distal 13q","Trissomia não-telomérica 13q"]},"pl":{"name":"Zespół duplikacji nietelomerowej 13q","synonyms":["Interstycjalna duplikacja 13q","Nietelomerowa trisomia 13q"]},"cs":{"name":"Non-distální trizomie 13q","synonyms":["Non-distální duplikace 13q","Non-telomerická trizomie 13q"]},"uk":{"name":"Недистальна дуплікація 13q","synonyms":["Недистальна трисомія 13q","Нетеломерна трисомія 13q"],"definition":"Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated."},"zh":{"name":"13号染色体长臂非远端三体","synonyms":["13号染色体长臂非远端重复"]},"tr":{"name":"Distal olmayan trizomi 13q","synonyms":["Telomerik olmayan trizomi 13q","Distal olmayan duplikasyon 13q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015724","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707260","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262932,"name":"Partial duplication of the long arm of chromosome 13 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"10674161[PMID]_10674161[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"10674161[PMID]_10674161[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null}]}}