{"orpha":96103,"name":"Distal duplication 11q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Telomeric duplication 11q","Trisomy 11qter","Distal trisomy 11q"],"definition":"Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96103/","orphanet_url":"https://www.orpha.net/en/disease/detail/96103","names":{"fr":{"name":"Syndrome de duplication distale 11q","synonyms":["Duplication 11qter","Duplication télomérique 11q","Trisomie 11qter","Trisomie distale 11q","Trisomie télomérique 11q"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras long du chromosome 11. Le phénotype est très variable, et se caractérise principalement par une dysmorphie craniofaciale (brachycéphalie/plagiocéphalie, oreilles implantées basses et ourlées vers l'arrière, philtrum court, micrognathie) et un déficit intellectuel. Une petite taille et des convulsions peuvent aussi être associées, ainsi que des anomalies cardiaques (comme une communication interauriculaire), squelettiques (dont une brachy-syndactylie) et génitales (micropénis, cryptorchidie). Des anomalies neurodéveloppementales (insensibilité à la douleur, surdité neurosensorielle, trouble du langage expressif) et neuropsychiatriques (signes autistiques, hallucinations auditives, se parler à soi-même) ont aussi été rapportées."},"de":{"name":"Distale Duplikation 11q","synonyms":["Distale Trisomie 11q","Duplikation 11q, distale","Telomere Duplikation 11q","Trisomie 11qter"],"definition":"Die distale Trisomie 11q ist eine seltene Chromosomenanomalie, die aus der partiellen Duplikation des langen Arms von Chromosom 11 resultiert und mit hoher phänotypischer Variabilität einhergeht. Hauptsächliche Merkmale sind kraniofaziale Dysmorphien (Brachyzephalie/Plagiozephalie, tief angesetzte, nach hinten gedrehte Ohren, kurzes Philtrum, Mikrognathie) und Intelligenzminderung. Kleinwuchs und Krampfanfälle, sowie kardiale (z.B. Vorhofseptumdefekt), skelettale (inkl. Brachy-/Syndaktylie) und genitale (z.B. Mikropenis, Kryptorchismus) Anomalien können ebenfalls assoziiert sein. Auch neurologische Entwicklungsanomalien (Schmerzunempfindlichkeit, sensorineurale Schwerhörigkeit, Mangel an expressiver Sprache) und neuropsychiatrische Störungen (autistische Merkmale, auditive Halluzinationen, Selbstgespräche) wurden dokumentiert."},"es":{"name":"Síndrome de duplicación terminal 11q","synonyms":["Trisomía 11qter","Trisomía terminal 11q"],"definition":"La trisomía terminal 11q es un síndrome de anomalías cromosómicas poco frecuente, resultante de la duplicación parcial del brazo largo del cromosoma 11, con una gran variabilidad fenotípica que se caracteriza principalmente por dismorfia craneofacial (braquicefalia/plagiocefalia, orejas de baja implantación y rotadas posteriormente, surco nasolabial corto, micrognatia) y discapacidad intelectual. También se pueden asociar talla baja y convulsiones, así como anomalías cardíacas (p. ej., comunicación interauricular), esqueléticas (incluyendo braqui/sindactilia) y genitales (p. ej., micropene, criptorquidia). También se han notificado anomalías del desarrollo neurológico (insensibilidad al dolor, pérdida auditiva neurosensorial, trastorno del lenguaje expresivo) y trastornos neuropsiquiátricos (rasgos autistas, alucinaciones auditivas, autohabla)."},"it":{"name":"Sindrome duplicazione 11q distale","synonyms":["Duplicazione 11q telomerica","Trisomia 11qter","Trisomia 11q distale"],"definition":"La trisomia 11q distale è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 11; il quadro clinico è molto variabile ed è prevalentemente caratterizzato da dismorfismi craniofacciali (brachicefalia/plagiocefalia, orecchie a basso impianto ruotate posteriormente, filtro corto, micrognazia) e disabilità intellettiva. Possono associarsi bassa statura, crisi epilettiche, cardiopatie (difetto del setto atriale), anomalie scheletriche (brachi/sindattilia) e genitali (micropene, criptorchidismo). Sono stati descritti pazienti con anomalie dello sviluppo neurologico (insensibilità al dolore, sordità neurosensoriale, deficit del linguaggio espressivo) e disturbi neuropsichiatrici (tratti autistici, allucinazioni uditive, tendenza a parlare da soli)."},"nl":{"name":"Distale duplicatie 11q-syndroom","synonyms":["Distale trisomie 11q","Telomerische duplicatie 11q","Trisomie 11qter"],"definition":"Distale trisomie 11q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 11, en vertoont een grote fenotypische variabiliteit die voornamelijk gekarakteriseerd wordt door craniofaciale dysmorfie (brachycefalie/plagiocefalie, laagstaande en naar achter gedraaide oren, kort filtrum, micrognathie) en intellectuele achterstand. Een kleine gestalte en insulten, alsook hart- (e.g. atriumseptumdefect), skelet- (incl. brachy-/syndactylie) en genitale (e.g. micropenis, cryptorchidie) afwijkingen kunnen ook geassocieerd zijn. Anomalieën van de neurologische ontwikkeling (ongevoeligheid voor pijn, sensorineuraal gehoorverlies, deficiëntie van expressieve taal) en neuropsychiatrische stoornissen (autistische kenmerken, auditieve hallucinatie, tegen jezelf praten) werden ook reeds gerapporteerd."},"pt":{"name":"Duplicação distal 11q","synonyms":["Duplicação telomérica 11q","Trissomia 11qter","Trissomia distal 11q"]},"pl":{"name":"Zespół duplikacji dystalnej 11q","synonyms":["Duplikacja dystalna 11q","Duplikacja telomerowa 11q","Trisomia 11qter"]},"cs":{"name":"Distální trizomie 11q","synonyms":["Distální duplikace 11q","Telomerická duplikace 11q","Trizomie 11qter"]},"uk":{"name":"Дистальна дуплікація 11q","synonyms":["Дистальна трисомія 11q","Теломерна дуплікація 11q","Трисомія 11qter"],"definition":"Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported."},"zh":{"name":"11号染色体长臂远端三体","synonyms":["11号染色体长臂端粒重复"],"definition":"11号染色体远端三体是一种罕见的染色体异常综合征，由11号染色体长臂部分重复引起，表型高度多变，主要表现为颅面畸形（短头/斜形头畸形、低位后旋耳、短人中、小颌畸形）和智力障碍。也可伴身材矮小和癫痫发作，以及心脏（如房间隔缺损）、骨骼（包括短/并指/趾）和生殖器（如小阴茎、隐睾）异常。神经发育异常（疼痛不敏感、感音神经性听力障碍、表达性语言障碍）和神经精神障碍（孤独症特征、幻听、自言自语）也有报道。"},"tr":{"name":"Distal trizomi 11q","synonyms":["Trizomi 11qter","Distal duplikasyon 11q","Telomerik duplikasyon 11q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019885","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538294","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931797","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262923,"name":"Partial duplication of the long arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}