{"orpha":1695,"name":"Non-distal duplication 10q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Non-distal trisomy 10q","Non-telomeric trisomy 10q"],"definition":"Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1695/","orphanet_url":"https://www.orpha.net/en/disease/detail/1695","names":{"fr":{"name":"Syndrome de duplication non distale 10q","synonyms":["Délétion non télomérique 10q","Trisomie non distale 10q","Trisomie non télomérique 10q"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras long du chromosome 10. Elle se caractérise par un retard de développement léger à modéré, un retard de croissance post-natale, une hypotonie centrale, une dysmorphie craniofaciale (incluant une microcéphalie, un front proéminent, des hélices plates et épaisses, de petits yeux profondément implantés, un épicanthus, un nez retroussé, une bouche en forme d'arc, un palais ogival, une micrognathie), des anomalies oculaires (comme un colobome irien, une dysplasie rétinienne, un strabisme), de longs membres graciles, ainsi que des anomalies squelettiques et digitales (scoliose, poly/syndactylie). Les signes additionnels incluent des anomalies cardiaques (p. ex. une communication interventriculaire), une atrésie anale et une cryptorchidie."},"de":{"name":"Nicht-distale Duplikation 10q","synonyms":["Nicht-distale Trisomie 10q","Nicht-telomere Trisomie 10q","Trisomie 10q, partielle"]},"es":{"name":"Síndrome de duplicación intersticial 10q","synonyms":["Trisomía intersticial 10q","Trisomía no terminal 10q"],"definition":"Es un síndrome de anomalías cromosómicas poco frecuente resultante de la duplicación parcial del brazo largo del cromosoma 10. Está caracterizada por retraso en el desarrollo de leve a moderado, retraso en el crecimiento postnatal, hipotonía central, dismorfia craneofacial (incluyendo microcefalia, frente prominente, hélix planas y gruesas, ojos pequeños y hundidos, epicanto, nariz respingona, boca en forma de arco, paladar ojival, micrognatia), anomalías oculares (p. ej., coloboma del iris, displasia retiniana, estrabismo), extremidades largas y delgadas y anomalías esqueléticas y digitales (escoliosis, poli- / sindactilia). Otras características adicionales descritas incluyen defectos cardíacos (p. ej., comunicación interventricular), atresia anal y criptorquidia."},"it":{"name":"Sindrome duplicazione 10q non distale","synonyms":["Trisomia 10q non distale","Trisomia 10q non telomerica"],"definition":"La trisomia 10q non distale è un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio lungo del cromosoma 10; è caratterizzata da ritardo dello sviluppo lieve-moderato, ritardo della crescita postnatale, ipotonia centrale, dismorfismi craniofacciali (microcefalia, fronte prominente, elici ispessiti e piatti, occhi piccoli e infossati, epicanto, punta del naso rivolta verso l'alto, bocca ad arco, palato ogivale, micrognazia), anomalie oculari (coloboma dell'iride, displasia della retina, strabismo), arti lunghi e assottigliati, e anomalie scheletriche e delle dita (scoliosi, poli/sindattilia). I pazienti possono presentare cardiopatie (difetto del setto interventricolare), atresia anale e criptorchidismo."},"nl":{"name":"Niet-distale duplicatie 10q-syndroom","synonyms":["Niet-distale trisomie 10q","Niet-telomerische trisomie 10q"],"definition":"Niet-distale trisomie 10q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 10, en wordt gekarakteriseerd door milde tot matige ontwikkelingsachterstand, postnatale groeiretardatie, centrale hypotonie, craniofaciale dysmorfie (inclusief microcefalie, uitgesproken voorhoofd, platte en dikke helices van het oor, diepliggende en kleine ogen, epicanthus, wipneus, boogvormige mond, hoog gebogen verhemelte, micrognathie), oculaire anomalieën (e.g. iriscoloboom, retinale dysplasie, strabisme), lange en slanke ledematen, en anomalieën van het skelet en vingers/tenen (scoliose, poly-/syndactylie). Bijkomende kenmerken die werden gerapporteerd, zijn onder meer hartdefecten (e.g. ventrikelseptumdefect), anusatresie, en cryptorchidie."},"pt":{"name":"Duplicação não-distal 10q","synonyms":["Trissomia não-distal 10q","Trissomia não-telomérica 10q"]},"pl":{"name":"Zespół duplikacji nietelomerowej 10q","synonyms":["Interstycjalna duplikacja 10q","Nietelomerowa trisomia 10q","Nietelomerowa duplikacja 10q"],"definition":"*Insterstycjalna trisomia 10q jest rzadką aberracją chromosomową, która polega na częściowej duplikacji długiego ramienia chromosomu 10. Charakteryzuje się łagodnym lub umiarkowanym opóźnieniem rozwoju, postnatalnym opóźnieniem wzrastania, ośrodkową hipotonią, dysmorfią twarzoczaszki (małogłowie, wydatne czoło, płaskie, grube obrąbki uszu, głęboko osadzone, małe oczy, zmarszczki nakątne, zadarty nos, łukowaty kształt ust, wysokie podniebienie, mikrognacja), wadami oczu (szczelina tęczówki, dysplazja siatkówki, zez), długimi, smukłymi kończynami oraz wadami układu szkieletowego i palców (skolioza, wielopalczastość/palcozrosty). Dodatkowe opisywano wady serca (wada przegrody międzykomorowej), atrezję odbytu i wnętrostwo."},"cs":{"name":"Non-distální trizomie 10q","synonyms":["Non-distální duplikace 10q","Non-telomerická trizomie 10q"]},"uk":{"name":"Недистальна дуплікація 10q","synonyms":["Недистальна трисомія 10q","Нетеломерна трисомія 10q"],"definition":"Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism."},"zh":{"name":"10号染色体长臂非远端三体","synonyms":["10号染色体长臂非远端重复"]},"tr":{"name":"Distal olmayan trizomi 10q","synonyms":["Telomerik olmayan trizomi 10q","Distal olmayan duplikasyon 10q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015712","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749376","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":262914,"name":"Partial duplication of the long arm of chromosome 10 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Not yet documented","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null}]}}