{"orpha":96069,"name":"Distal duplication 1p36 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 1p36","Telomeric duplication 1p36","Trisomy 1pter"],"definition":"Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96069/","orphanet_url":"https://www.orpha.net/en/disease/detail/96069","names":{"fr":{"name":"Syndrome de duplication distale 1p36","synonyms":["Duplication 1pter","Duplication télomérique 1p36","Trisomie 1pter","Trisomie distale 1p36","Trisomie télomérique 1p36"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras court du chromosome 1. Il se caractérise par un déficit intellectuel léger à limite, un léger retard de développement, une craniosynostose métopique et une dysmorphie craniofaciale (incluant un front fuyant, un rétrécissement bitemporal, un blépharophimosis). Les autres anomalies associées peuvent inclure un retard de croissance, une microcéphalie, de larges mains, une syndactylie, des côtes surnuméraires, une sténose rectale et/ou un anus placé de manière antérieure. Des malformations cardiaques congénitales (comme une communication interauriculaire, une persistance du canal artériel) ont aussi été rapportées."},"de":{"name":"Distale Duplikation 1p36","synonyms":["Distale Trisomie 1p36","Telomere Duplikation 1p36","Trisomie 1pter"],"definition":"Die distale Trisomie 1p36 ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des kurzen Arms von Chromosom 1 resultiert. Das Syndrom ist gekennzeichnet durch eine grenzwertige bis leichte Intelligenzminderung, eine leichte Entwicklungsverzögerung, eine metopische Kraniosynostose und eine leichte kraniofaziale Dysmorphie (inkl. fliehende Stirn, bitemporale Verengung, Blepharophimose). Weitere assoziierte Anomalien umfassen Wachstumsretardierung, Mikrozephalie, große Hände, Syndaktylie, überzählige Rippen, Rektumstenose und/oder anteriore Anusverlagerung. Es wurde auch über angeborene Herzfehlbildungen (z. B. Vorhofseptumdefekt, offener Ductus arteriosus) berichtet."},"es":{"name":"Síndrome de duplicación terminal 1p36","synonyms":["Trisomía 1pter","Trisomía terminal 1p36"],"definition":"Es un síndrome de anomalías cromosómicas poco frecuente resultante de la duplicación parcial del brazo corto del cromosoma 1. Está caracterizada por discapacidad intelectual de leve a límite, leve retraso en el desarrollo, craneosinostosis metópica y leve dismorfia craneofacial (incluyendo frente prominente, estrechamiento temporal y blefarofimosis). Otras anomalías asociadas pueden incluir retraso en el crecimiento, microcefalia, manos grandes, sindactilia, costillas supernumerarias, estenosis rectal y/o desplazamiento anterior del ano. También se han descrito malformaciones cardíacas congénitas (p. ej., defecto septal atrial, conducto arterioso persistente)."},"it":{"name":"Sindrome duplicazione 1p36 distale","synonyms":["Trisomia 1p36 distale","Duplicazione 1p36 telomerica","Trisomia 1pter"],"definition":"La trisomia distale 1p36 è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio corto del cromosoma 1. È caratterizzata da disabilità intellettiva borderline o lieve, lieve ritardo dello sviluppo, craniosinostosi metopica e dismorfismi facciali sfumati (fronte obliqua, restringimento bitemporale, blefarofimosi). Altre anomalie associate sono il ritardo della crescita, la microcefalia, le mani grandi, la sindattilia, le costole soprannumerarie, la stenosi del retto e/o l'ano anteriorizzato. Sono stati descritti pazienti con cardiopatie congenite (difetto del setto interatriale, dotto arterioso pervio)."},"nl":{"name":"Distale duplicatie 1p36-syndroom","synonyms":["Distale trisomie 1p36","Telomerische duplicatie 1p36","Trisomie 1pter"],"definition":"Distale trisomie 1p36 is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de korte arm van chromosoom 1, en wordt gekarakteriseerd door minimale tot milde intellectuele achterstand, milde ontwikkelingsachterstand, metopische craniosynostose en milde craniofaciale dysmorfie (inclusief hellend voorhoofd, bitemporale vernauwing, blefarofimose). Andere afwijkingen die mogelijk zijn geassocieerd, zijn onder meer groeiretardatie, microcefalie, grote handen, syndactylie, extra ribben, rectale stenose en/of anterieur aangelegde anus. Congenitale hartmalformaties (e.g. atriumseptumdefect, persisterende ductus arteriosus) werden ook reeds gerapporteerd."},"pt":{"name":"Duplicação distal 1p36","synonyms":["Duplicação telomérica 1p36","Trissomia 1pter","Trissomia distal 1p36"]},"pl":{"name":"Zespół duplikacji dystalnej 1p36","synonyms":["Duplikacja dystalna 1p36","Duplikacja telomerowa 1p36","Trisomia 1pter"]},"cs":{"name":"Distální trizomie 1p36","synonyms":["Distální duplikace 1p36","Telomerická duplikace 1p36","Trizomie 1pter"]},"uk":{"name":"Дистальна дуплікація 1p36","synonyms":["Дистальна трисомія 1р36","Теломерна дуплікація 1p36","Трисомія 1pter"],"definition":"Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported."},"zh":{"name":"1p36远端三体","synonyms":["1p36端粒重复"],"definition":"1p36远端三体是一种罕见的染色体异常综合征，由1号染色体短臂部分重复引起，其特征是临界性到轻度视力障碍、轻度发育迟缓、额部颅缝早闭、轻度颅面畸形（包括前额倾斜、双颞狭窄、睑裂狭小）。其他相关异常可能包括生长迟缓、小头畸形、大手、并指畸形、多余肋骨、直肠狭窄和/或肛门前移位。先天性心脏畸形（如房间隔缺损、动脉导管未闭）也有报道。"},"tr":{"name":"Distal trizomi 1p36","synonyms":["Trizomi 1pter","Distal duplikasyon 1p36","Telomerik duplikasyon 1p36"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1447779481"},{"source":"MONDO","code":"0019870","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707665","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":264431,"name":"Partial duplication of the short arm of chromosome 1 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}