{"orpha":96097,"name":"Distal duplication 5q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 5q","Telomeric duplication 5q","Trisomy 5qter"],"definition":"Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96097/","orphanet_url":"https://www.orpha.net/en/disease/detail/96097","names":{"fr":{"name":"Syndrome de duplication distale 5q","synonyms":["Monosomie télomérique 5q","Trisomie 5qter","Trisomie distale 5q","Duplication 5qter","Duplication télomérique 5q"],"definition":"Un syndrome d'anomalie chromosomique rare causé par la duplication partielle du bras long du chromosome 5. Il se caractérise par une petite taille, un déficit intellectuel modéré et une dysmorphie craniofaciale (microcéphalie, visage plat, oreilles larges, dysplasiques, implantées basses, fentes palpébrales obliques en bas et en dehors, en forme d'amande, hypertélorisme, plis épicanthiques, petit nez, long philtrum, petite bouche avec une lèvre supérieure fine, micrognathie). Le retard cognitif et de la parole est fréquent, tout comme les anomalies cardiaques (ventriculomégalie, communication interventriculaire) et squelettiques, (craniosynostose, agénésie radiale, hypoplasie ulnaire, brachydactylie), et les malformations génitales (hypospadias, cryptorchidie)."},"de":{"name":"Distale Duplikation 5q","synonyms":["Distale Trisomie 5q","Duplikation 5q, distale","Telomere Duplikation 5q","Trisomie 5qter"],"definition":"Die distale Trisomie 5q ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des langen Arms von Chromosom 5 resultiert. Sie ist gekennzeichnet durch Kleinwuchs, moderate Intelligenzminderung und kraniofaziale Dysmorphien (Mikrozephalie, flaches Gesicht, große, tief angesetzte dysplastische Ohren, nach unten geneigte, mandelförmige Lidspalten, Hypertelorismus, Epikanthusfalten, kleine Nase, langes Philtrum, kleiner Mund mit dünner Oberlippe und Mikrognathie). Die Patienten zeigen außerdem häufig Sprach- und kognitive Verzögerungen, kardiale (Ventrikulomegalie, Ventrikelseptumdefekt) und skelettale Anomalien (Kraniosynostose, Radialis-Agenesie, Ulnar-Hypoplasie, Brachydaktylie) sowie genitale Fehlbildungen (Hypospadie, Kryptorchismus)."},"es":{"name":"Síndrome de duplicación terminal 5q","synonyms":["Trisomía 5qter","Trisomía terminal 5q"],"definition":"La trisomía terminal 5q es una anomalía cromosómica poco frecuente, producida por una duplicación parcial del brazo largo del cromosoma 5. Está caracterizada por talla baja, discapacidad intelectual moderada y dismorfia craneofacial (microcefalia, facies plana, orejas displásicas grandes y de baja implantación, fisuras palpebrales en forma de almendra, hipertelorismo, pliegues epicánticos, nariz pequeña, surco nasolabial largo, boca pequeña con labio superior delgado y micrognatia). Con frecuencia, los afectados también presentan retraso cognitivo y del lenguaje, anomalías cardiacas (ventriculomegalia, defecto septal ventricular) y anomalías esqueléticas (craneosinostosis, agenesia radial, hipoplasia cubital, braquidactilia) y malformaciones genitales (hipospadias, criptorquidia)."},"it":{"name":"Sindrome duplicazione 5q distale","synonyms":["Trisomia 5q distale","Duplicazione 5q telomerica","Trisomia 5qter"],"definition":"La trisomia distale 5q è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 5. È caratterizzata da bassa statura, disabilità intellettiva moderata e dismorfismi cranio-facciali (microcefalia, volto piatto, orecchie displastiche grandi e a basso impianto, rime palpebrali a mandorla oblique verso il basso, ipertelorismo, epicanto, naso piccolo, filtro lungo, bocca piccola con labbro superiore sottile e micrognazia). Spesso i pazienti presentano ritardo cognitivo e del linguaggio, cardiopatie (ventricolomegalia, difetto del setto ventricolare), anomalie scheletriche (craniosinostosi, agenesia del radio, ipoplasia dell'ulna, brachidattilia) e malformazioni genitali (ipospadia, criptorchidismo)."},"nl":{"name":"Distale duplicatie 5q-syndroom","synonyms":["Distale trisomie 5q","Telomerische duplicatie 5q","Trisomie 5qter"],"definition":"Distale trisomie 5q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 5, dat gekarakteriseerd wordt door kleine gestalte, matige intellectuele achterstand, en craniofaciale dysmorfie (microcefalie, plat gezicht, grote en laagstaande dysplastische oren, neerwaartse, amandelvormige ooglidspleten, hypertelorisme, epicanthusplooien, kleine neus, lang filtrum, kleine mond met dunne bovenlip, en micrognathie). Patiënten vertonen ook vaak spraakachterstand en cognitieve achterstand, hart- (ventriculomegalie, ventrikelseptumdefect) en skeletafwijkingen (craniosynostose, radiale agenesie, ulnaire hypoplasie, brachydactylie) en genitale malformaties (hypospadieën, cryptorchidie)."},"pt":{"name":"Duplicação distal 5q","synonyms":["Duplicação telomérica 5q","Trissomia 5qter","Trissomia distal 5q"]},"pl":{"name":"Zespół duplikacji dystalnej 5q","synonyms":["Duplikacja dystalna 5q","Duplikacja telomerowa 5q","Trisomia 5qter"]},"cs":{"name":"Distální trizomie 5q","synonyms":["Distální duplikace 5q","Telomerická duplikace 5q","Trizomie 5qter"]},"uk":{"name":"Дистальна дуплікація 5q","synonyms":["Дистальна трисомія 5q","Теломерна дуплікація 5q","Трисомія 5qter"],"definition":"Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism)."},"zh":{"name":"5号染色体长臂远端三体","synonyms":["5号染色体长臂端粒重复"],"definition":"5号染色体长臂远端三体是一种罕见的染色体异常综合征，由5号染色体长臂的部分重复引起，其特征是身材矮小、中度智力障碍和颅面畸形（小头畸形、扁平椎骨、发育不良的低位大耳、杏仁状下斜眼睑裂、眼间距宽、内眦赘皮、小鼻子、人中长、小嘴、上唇薄、小颌畸形。患者还经常出现语言和认知障碍、心脏（心室扩大、室间隔缺损）和骨骼异常（颅缝早闭、桡骨发育不全、尺骨发育不全、短指/趾畸形）和生殖器畸形（尿道下裂、隐睾）。"},"tr":{"name":"Distal trizomi 5q","synonyms":["Trizomi 5qter","Distal duplikasyon 5q","Telomerik duplikasyon 5q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.40","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706363","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262869,"name":"Partial duplication of the long arm of chromosome 5 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-09","source":"9070658[PMID]_11050625[PMID]_16770806[PMID]_17955513[PMID]_23342975[PMID]_500089[PMID]_445868[PMID]","terms":[{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009777","label":"Absent thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011466","label":"Aplasia/Hypoplasia of the gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null}]}}