{"orpha":1716,"name":"Distal duplication 18q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 18q","Telomeric duplication 18q","Trisomy 18qter"],"definition":"A rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1716/","orphanet_url":"https://www.orpha.net/en/disease/detail/1716","names":{"fr":{"name":"Syndrome de duplication distale 18q","synonyms":["Duplication 18qter","Duplication télomérique 18q","Trisomie 18qter","Trisomie distale 18q"],"definition":"Trisomie partielle rare des autosomes caractérisée par un phénotype variable comprenant hypotonie, retard moteur, déficience intellectuelle légère à sévère, convulsions, anomalies cérébrales variables, syndactylie des doigts/orteils, clinodactylie du 5<sup>e</sup> doigt, strabisme, cou court et dysmorphie faciale."},"de":{"name":"Distale Duplikation 18q","synonyms":["Distale Trisomie 18q","Telomere Duplikation 18q","Trisomie 18qter"]},"es":{"name":"Síndrome de duplicación terminal 18q","synonyms":["Trisomía 18qter","Trisomía terminal 18q"],"definition":"Es una trisomía parcial autosómica, poco frecuente, caracterizada por un fenotipo variable que incluye hipotonía, retraso motor, discapacidad intelectual de leve a grave, convulsiones, diferentes anomalías cerebrales, sindactilia en manos/pies, clinodactilia del dedo meñique, estrabismo, cuello corto y características faciales dismórficas."},"it":{"name":"Sindrome duplicazione 18q distale","synonyms":["Duplicazione 18q telomerica","Trisomia 18q distale","Trisomia 18qter"],"definition":"La trisomia 18q distale è una trisomia autosomica parziale rara, caratterizzata da un quadro clinico variabile, che comprende l'ipotonia, il ritardo motorio, la disabilità intellettiva da lieve a grave, le crisi epilettiche, le anomalie cerebrali variabili, la sindattilia delle dita delle mani/dei piedi, la clinodattilia del quinto dito, lo strabismo, il collo corto e i dismorfismi facciali."},"nl":{"name":"Distale duplicatie 18q-syndroom","synonyms":["Distale trisomie 18q","Telomerische duplicatie 18q","Trisomie 18qter"],"definition":"Distale trisomie 18q is een zeldzame, partiële autosomale trisomie die gekarakteriseerd wordt door een variabel fenotype met onder meer hypotonie, motorische achterstand, milde tot ernstige intellectuele achterstand, insulten, variabele cerebrale anomalieën, syndactylie van vingers/tenen, clinodactylie van de vijfde vinger, strabisme, korte nek/hals en dysmorfe gelaatskenmerken."},"pt":{"name":"Duplicação distal 18q","synonyms":["Duplicação telomérica 18q","Trissomia 18qter","Trissomia distal 18q"]},"pl":{"name":"Zespół duplikacji dystalnej 18q","synonyms":["Dystalna duplikacja 18q","Telomerowa duplikacja 18q","Trisomia 18qter"],"definition":"*Dystalna trisomia 18q to rzadka, częściowa trisomia autosomu, która charakteryzuje się zmiennym fenotypem, obejmującym hipotonię, opóźnienie ruchowe, łagodną lub ciężką niepełnosprawność intelektualną, napady padaczkowe, różne wady mózgowe, syndaktylię dłoni i stóp, klinodaktylię piątego palca dłoni, zez, krótką szyję i dysmorfię twarzy."},"cs":{"name":"Distální trizomie 18q","synonyms":["Distální duplikace 18q","Telomerická duplikace 18q","Trizomie 18qter"]},"uk":{"name":"Дистальна дуплікація 18q","synonyms":["Дистальна трисомія 18q","Теломерна дуплікація 18q","Трисомія 18qter"],"definition":"A rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features."},"zh":{"name":"18号染色体长臂远端三体","synonyms":["18号染色体长臂远端重复"]},"tr":{"name":"Distal trizomi 18q","synonyms":["Trizomi 18qter","Distal duplikasyon 18q","Telomerik duplikasyon 18q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015741","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190516","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262977,"name":"Partial duplication of the long arm of chromosome 18 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Worldwide","status":"Validated","source":"36064004[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","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:0004622","label":"Progressive intervertebral space narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000055","label":"Abnormality of female external genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null}]}}