{"orpha":3379,"name":"Distal duplication 17q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 17q","Telomeric duplication 17q","Trisomy 17qter"],"definition":"Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3379/","orphanet_url":"https://www.orpha.net/en/disease/detail/3379","names":{"fr":{"name":"Syndrome de duplication distale 17q","synonyms":["Duplication 17qter","Duplication télomérique 17q","Trisomie 17qter","Trisomie distale 17q","Trisomie télomérique 17q"],"definition":"Syndrome rare d'anomalie chromosomique avec un phénotype variable principalement caractérisé par une déficience intellectuelle, un retard de développement, une petite taille, une dysmorphie craniofaciale (microcéphalie, implantation basse de la ligne capillaire postérieure, front proéminent, rétrécissement bitemporal, oreilles d'implantation basse et malformées, pont nasal plat, philtrum long, bouche large aux commissures tombantes, lèvre supérieure fine) et un cou court et palmée, ainsi que des anomalies squelettiques (brachyrhizomélie, poly-/syndactylie) et une hyperlaxité articulaire. Des anomalies cardiaques, cérébrales et urogénitales sont par ailleurs fréquemment associées."},"de":{"name":"Distale Duplikation 17q","synonyms":["Distale Trisomie 17q","Telomere Duplikation 17q","Trisomie 17qter"],"definition":"Die distale Trisomie 17q ist ein seltene Chromosomenanomalie mit variablem Phänotyp. Die hauptsächlichen Merkmale sind Intelligenzminderung, Entwicklungsverzögerung, Kleinwuchs, kraniofaziale Dysmorphien (incl. Mikrozephalie, niedriger hinterer Haaransatz, frontaler Buckel, bitemporale Verschmälerung, tief angesetzte und fehlgebildete Ohren, flacher Nasenrücken, langes Philtrum, breiter Mund mit nach unten gedrehten Ecken, dünne Oberlippe), ein kurzer Hals mit Pterygium colli, sowie Skelettanomalien (z.B. Brachyrhizomelie, Poly-/Syndaktylie) und Gelenkhyperlaxie. Auch kardiale, zerebrale und urogenitale Anomalien sind häufig assoziiert."},"es":{"name":"Síndrome de duplicación terminal 17q","synonyms":["Trisomía 17qter","Trisomía terminal 17q"],"definition":"Es un síndrome por anomalía cromosómica poco frecuente con fenotipo variable caracterizado principalmente por discapacidad intelectual, retraso en el desarrollo, talla baja, dismorfia craneofacial (incluyendo microcefalia, línea posterior de implantación del cabello baja, frente prominente, estrechamiento bitemporal, orejas malformadas y de baja implantación, puente nasal plano, filtrum largo, boca ancha con comisuras inclinadas hacia abajo, labio superior delgado) y cuello corto y alado, así como anomalías esqueléticas (p. ej., braquirizomelia, poli-/sindactilia) e hiperlaxitud articular. Se asocian con frecuencia anomalías cardíacas, cerebrales y urogenitales."},"it":{"name":"Sindrome duplicazione 17q distale","synonyms":["Duplicazione 17q telomerica","Trisomia 17qter","Trisomia 17q distale"],"definition":"La trisomia 17q distale è un'anomalia cromosomica rara, caratterizzata prevalentemente da disabilità intellettiva, ritardo dello sviluppo, bassa statura, dismorfismi craniofacciali (microcefalia, impianto basso dei capelli sulla nuca, fronte bombata, restringimento bitemporale, orecchie malformate e a basso impianto, sella nasale piatta, filtro lungo, bocca grande con angoli rivolti verso il basso, labbro superiore sottile), collo corto e palmato, anomalie scheletriche (brachirizomelia, poli-/sindattilia) e iperlassità articolare. Spesso i pazienti presentano anche cardiopatie, anomalie cerebrali e urogenitali."},"nl":{"name":"Distale duplicatie 17q-syndroom","synonyms":["Distale trisomie 17q","Telomerische duplicatie 17q","Trisomie 17qter"],"definition":"Distale trisomie 17q is een zeldzaam syndroom met een chromosomale anomalie, en vertoont een variabel fenotype dat voornamelijk gekarakteriseerd wordt door intellectuele achterstand, ontwikkelingsachterstand, kleine gestalte, craniofaciale dysmorfie (inclusief microcefalie, lage achterste haarlijn, boller voorhoofd, bitemporale vernauwing, laagstaande en misvormde oren, platte neusbrug, lang filtrum, brede mond met naar beneden gekeerde mondhoeken, dunne bovenlip) en een korte nek met nekplooi, alsook skeletanomalieën (e.g. brachyrhizomelie, poly-/syndactylie) en hypermobiliteit van de gewrichten. Cardiale, cerebrale, en urogenitale anomalieën zijn ook frequent geassocieerd."},"pt":{"name":"Duplicação distal 17q","synonyms":["Duplicação telomérica 17q","Trissomia 17qter","Trissomia distal 17q"]},"pl":{"name":"Zespół duplikacji dystalnej 17q","synonyms":["Dystalna duplikacja 17q","Telomerowa duplikacja 17q","Trisomia 17qter"]},"cs":{"name":"Distální trizomie 17q","synonyms":["Distální duplikace 17q","Telomerická duplikace 17q","Trizomie 17qter"]},"uk":{"name":"Дистальна дуплікація 17q","synonyms":["Дистальна трисомія 17q","Теломерна дуплікація 17q","Трисомія 17qter"],"definition":"Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated."},"zh":{"name":"17号染色体长臂远端三体","synonyms":["17号染色体长臂远端重复"]},"tr":{"name":"Distal trizomi 17q","synonyms":["Trizomi 17qter","Distal duplikasyon 17q","Telomerik çoğaltma 17q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018069","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536579","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707663","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262968,"name":"Partial duplication of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"39619310[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"39619310[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-26","source":"477015[PMID]_12244560[PMID]_8267933[PMID]_3359688[PMID]_3265610[PMID]_3874592[PMID]_18444226[PMID]_20420026[PMID]_20420026[PMID]_26166353[PMID]_477015[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009911","label":"Abnormal temporal bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006897","label":"Abducens palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001747","label":"Accessory spleen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}