{"orpha":1705,"name":"Distal duplication 14q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Telomeric duplication 14q","Trisomy 14qter"],"definition":"Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1705/","orphanet_url":"https://www.orpha.net/en/disease/detail/1705","names":{"fr":{"name":"Syndrome de duplication distale 14q","synonyms":["Duplication 14qter","Duplication télomérique 14q","Trisomie 14qter","Trisomie distale 14q"],"definition":"Duplication partielle du bras long du chromosome 14 rare, caractérisée par des signes cliniques variables, le plus souvent un retard de croissance et un faible poids à la naissance, une hypotonie, un retard de développement, une déficience intellectuelle, une petite taille, une microcéphalie, une dysmorphie faciale (front proéminent, hypertélorisme, nez bulbeux, micrognathie, cheveux et sourcils clairsemés), des malformations cardiaques congénitales, une spasticité et une hyperréflexie."},"de":{"name":"Distale Duplikation 14q","synonyms":["Telomere Duplikation 14q","Trisomie 14qter"]},"es":{"name":"Síndrome de duplicación terminal 14q","synonyms":["Trisomía 14qter"],"definition":"Es una duplicación parcial poco frecuente del brazo largo del cromosoma 14 caracterizada por manifestaciones clínicas variables que, por lo general, incluyen retraso del crecimiento y bajo peso al nacer, hipotonía, retraso del desarrollo, discapacidad intelectual, talla baja, microcefalia, dismorfia facial (frente prominente, hipertelorismo, nariz bulbosa, micrognacia, cabello y cejas escasos), defectos cardíacos congénitos, espasticidad e hiperreflexia."},"it":{"name":"Sindrome duplicazione 14q distale","synonyms":["Duplicazione 14q telomerica","Trisomia 14qter"],"definition":"La trisomia 14q distale è una duplicazione parziale rara del braccio lungo del cromosoma 14, caratterizzata da un quadro clinico variabile, che di solito comprende il ritardo della crescita, il basso peso neonatale, l'ipotonia, il ritardo dello sviluppo, la disabilità intellettiva, la bassa statura, la microcefalia, i dismorfismi facciali (fronte bombata, ipertelorismo, naso globoso, micrognazia, capelli e sopracciglia rade), le cardiopatie congenite, la spasticità e l'iperreflessia."},"nl":{"name":"Distale duplicatie 14q-syndroom","synonyms":["Telomerische duplicatie 14q","Trisomie 14qter"],"definition":"Een zeldzame partiële duplicatie van de lange arm van chromosoom 14, gekarakteriseerd door variabele klinische kenmerken, voornamelijk groeiretardatie en laag geboortegewicht, hypotonie, ontwikkelingsachterstand, intellectuele achterstand, kleine gestalte, microcefalie, faciale dysmorfie (boller voorhoofd, hypertelorisme, bolle neus, micrognathie, schaarste van haar en wenkbrauwen), congenitale hartdefecten, spasticiteit, en hyperreflexie."},"pt":{"name":"Duplicação distal 14q","synonyms":["Duplicação telomérica 14q","Trissomia 14qter","Trissomia distal 14q"]},"pl":{"name":"Zespół duplikacji dystalnej 14q","synonyms":["Dystalna duplikacja 14q","Telomerowa duplikacja 14q","Trisomia 14qter"],"definition":"*Dystalna trisomia 14q jest rzadką, częściową duplikacją długiego ramienia chromosomu 14, która charakteryzuje się zróżnicowanym obrazem klinicznym, najczęściej obejmującym opóźnienie wzrastania i niską masę urodzeniową, hipotonię, opóźnienie rozwoju, niepełnosprawność intelektualną, niski wzrost, małogłowie, dysmorfię twarzy (wypukłe czoło, hiperteloryzm, bulwiasty nos, małożuchwie, rzadkie włosy i brwi), wrodzone wady serca, spastyczność i wygórowane odruchy."},"cs":{"name":"Distální trizomie 14q","synonyms":["Distální duplikace 14q","Telomerická duplikace 14q","Trizomie 14qter"]},"uk":{"name":"Дистальна дуплікація 14q","synonyms":["Теломерна дуплікація 14q","Трисомія 14qter"],"definition":"Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia."},"zh":{"name":"14号染色体长臂远端三体","synonyms":["14号染色体长臂末端着丝粒重复"]},"tr":{"name":"Distal trizomi 14q","synonyms":["Trizomi 14qter","Distal duplikasyon 14q","Telomerik duplikasyon 14q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015726","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538034","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931702","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262941,"name":"Partial duplication of the long arm of chromosome 14 syndrome","classifications":[147,156]},{"orpha":98574,"name":"Syndromic epicanthus","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"6500567[PMID]_3612709[PMID]_27590390[PMID]_1524416[PMID]_ 2227953[PMID]_6196971[PMID]_18434272[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"6500567[PMID]_3612709[PMID]_27590390[PMID]_1524416[PMID]_ 2227953[PMID]_6196971[PMID]_18434272[PMID]_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:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null}]}}