{"orpha":96100,"name":"Distal duplication 8q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 8q","Telomeric duplication 8q","Trisomy 8qter"],"definition":"Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96100/","orphanet_url":"https://www.orpha.net/en/disease/detail/96100","names":{"fr":{"name":"Syndrome de duplication distale 8q","synonyms":["Duplication 8qter","Duplication télomérique 8q","Trisomie 8qter","Trisomie distale 8q","Trisomie télomérique 8q"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras long du chromosome 8. Le phénotype est très variable et se caractérise habituellement par un retard de croissance et de développement, un déficit intellectuel, une petite taille, une dysmorphie cranio-faciale (microcéphalie, front proéminent, hypertélorisme, fentes palpébrales anormales, larges oreilles implantées basses, pointe nasale éversée, micro-/rétrognathie) et des malformations cardiaques congénitales, ainsi que des anomalies squelettiques et des membres. Les autres signes rapportés incluent des anomalies ophtalmologiques (comme une mégalocornée), une cryptorchidie, une hypertrichose et des manifestations neurologiques (comme une hypotonie, une perte de l'audition et des convulsions)."},"de":{"name":"Distale Duplikation 8q","synonyms":["Distale Trisomie 8q","Duplikation 8q, distale","Telomere Duplikation 8q","Trisomie 8qter"],"definition":"Die distale Trisomie 8q ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des langen Arms von Chromosom 8 resultiert und einen sehr variablen Phänotyp aufweist. Typische Merkmale sind Wachstums- und Entwicklungsverzögerung, Intelligenzminderung, Kleinwuchs, kraniofazialen Dysmorphismus (Mikrozephalie, prominente Stirn, Hypertelorismus, abnorme Lidspalten, tief angesetzte, große Ohren, antevertierte Nasenspitze, Mikro-/Retrognathie), angeborene Herzfehler sowie Skelett- und Extremitätenanomalien. Ophthalmologische Anomalien (z. B. Megalokornea), Kryptorchismus, Hypertrichose und neurologische Manifestationen (z. B. Hypotonie, Hörverlust und Krampfanfälle) sind ebenfalls assoziiert."},"es":{"name":"Síndrome de duplicación terminal 8q","synonyms":["Trisomía 8qter","Trisomía terminal 8q"],"definition":"La trisomía terminal 8q es una anomalía cromosómica poco frecuente, resultante de la duplicación parcial del brazo largo del cromosoma 8. Presenta un fenotipo muy variable caracterizado por retraso del crecimiento y del desarrollo, discapacidad intelectual, talla baja, dismorfia craneofacial (microcefalia, frente prominente, hipertelorismo, fisuras palpebrales anómalas, orejas grandes y de baja implantación, punta nasal antevertida, micro/retrognatia), defectos cardíacos congénitos y anomalías esqueléticas y de las extremidades. Otras características notificadas incluyen anomalías oftalmológicas (por ejemplo, megalocórnea), criptorquidia, hipertricosis y manifestaciones neurológicas (por ejemplo, hipotonía, pérdida auditiva y convulsiones)."},"it":{"name":"Sindrome duplicazione 8q distale","synonyms":["Trisomia 8q distale","Duplicazione 8q telomerica","Trisomia 8qter"],"definition":"La trisomia distale 8q è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 8; il quadro clinico è molto variabile, di solito caratterizzato da ritardo della crescita e dello sviluppo, disabilità intellettiva, bassa statura, dismorfismi craniofacciali (microcefalia, fronte prominente, ipertelorismo, anomalie delle rime palpebrali, orecchie grandi a basso impianto, punta del naso anteversa, micro/retrognazia), cardiopatie congenite e anomalie scheletriche e degli arti. Altri segni clinici sono le anomalie oculari (megalocornea), il criptorchidismo, l'ipertricosi e i sintomi neurologici (ipotonia, sordità e crisi epilettiche)."},"nl":{"name":"Distale duplicatie 8q-syndroom","synonyms":["Distale trisomie 8q","Telomerische duplicatie 8q","Trisomie 8qter"],"definition":"Distale trisomie 8q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 8, met een hoogst variabel fenotype dat typisch gekarakteriseerd wordt door groei- en ontwikkelingsachterstand, intellectuele achterstand, kleine gestalte, craniofaciale dysmorfie (microcefalie, uitgesproken voorhoofd, hypertelorisme, abnormale ooglidspleten, laagstaande en grote oren, anteversie van de neustip, micro-/retrognathie), congenitale hartdefecten en anomalieën van het skelet en de ledematen. Overige gerapporteerde kenmerken zijn onder meer oftalmologische afwijkingen (e.g. megalocornea), cryptorchidie, hypertrichose, en neurologische manifestaties (e.g. hypotonie, gehoorverlies, en insulten)."},"pt":{"name":"Duplicação distal 8q","synonyms":["Trissomia distal 8q","Duplicação telomérica 8q","Trissomia 8qter"]},"pl":{"name":"Zespół duplikacji dystalnej 8q","synonyms":["Duplikacja dystalna 8q","Duplikacja telomerowa 8q","Trisomia 8qter"]},"cs":{"name":"Distální trizomie 8q","synonyms":["Distální duplikace 8q","Telomerická duplikace 8q","Trizomie 8qter"]},"uk":{"name":"Дистальна дуплікація 8q","synonyms":["Дистальна трисомія 8q","Теломерна дуплікація 8q","Трисомія 8qter"],"definition":"Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures)."},"zh":{"name":"8号染色体长臂远端三体","synonyms":["8号染色体长臂端粒重复"],"definition":"8号染色体长臂远端是一种罕见的染色体异常综合征，由8号染色体长臂部分重复引起，具有高度多变的表型，其典型特征是生长发育迟缓、智力障碍、身材矮小、颅面畸形（小头畸形、前额突出、眼间距宽、异常眼睑裂、低位大耳、鼻孔前倾、小颌/下颌后缩畸形、先天性心脏病、骨骼和肢体异常。其他报告的表现包括眼异常（如巨角膜）、隐睾、多毛和神经系统表现（如肌张力减退、听力丧失和癫痫发作）。"},"tr":{"name":"Distal trizomi 8q","synonyms":["Trizomi 8qter","Distal duplikasyon 8q","Telomerik duplikasyon 8q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"201876437"},{"source":"MONDO","code":"0019882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706365","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262896,"name":"Partial duplication of the long arm of chromosome 8 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}