{"orpha":96129,"name":"Distal deletion 19p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal deletion 19p13.3","Distal monosomy 19p13.3","Telomeric deletion 19p"],"definition":"Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96129/","orphanet_url":"https://www.orpha.net/en/disease/detail/96129","names":{"fr":{"name":"Syndrome de délétion distale 19p","synonyms":["Délétion télomérique 19p","Monosomie distale 19p13.3","Délétion distale 19p13.3"],"definition":"Anomalie chromosomique rare associée à un large éventail de caractéristiques phénotypiques en fonction de la taille de la délétion. Elle peut se manifester par un retard de croissance intra-utérin, un retard de croissance staturo-pondérale, un retard global de développement, une dysmorphie (front large, rétraction de l'étage moyen de la face, un pont nasal large, une micrognathie, un philtrum lisse, des oreilles dysplasiques d'implantation basse), des anomalies congénitales (communication interauriculaire, troubles gastro-intestinaux, malformations rénales et urogénitales, agénésie du corps calleux) et d'autres caractéristiques cliniques (perte auditive, déficience visuelle et dérèglement immunitaire)."},"de":{"name":"Distale Deletion 19p","synonyms":["Deletion 19p, distale","Distale Deletion 19p13.3","Telomere Deletion 19p"]},"es":{"name":"Síndrome de deleción terminal 19p","synonyms":["Deleción terminal 19p13.3","Monosomía terminal 19p13.3"],"definition":"Es una anomalía cromosómica poco frecuente asociada a una gran variedad de características fenotípicas en función del tamaño de la deleción. Puede presentarse con retraso en el crecimiento intrauterino, fallo de medro, retraso global del desarrollo, características dismórficas (tales como frente ancha, retrusión del tercio medio facial, puente nasal ancho, micrognatia, surco nasolabial liso, orejas displásicas y de implantación baja), anomalías congénitas (tales como comunicación interauricular, anomalías gastrointestinales, malformaciones renales y urogenitales, agenesia del cuerpo calloso) y otros hallazgos clínicos (tales como pérdida de audición, discapacidad visual y disregulación inmunitaria)."},"it":{"name":"Sindrome delezione 19p distale","synonyms":["Delezione 19p13.3 distale","Delezione 19p telomerica"],"definition":"La monosomia 19p13.3 distale è un'anomalia cromosomica rara, caratterizzata da un quadro clinico molto variabile, che dipende dalle dimensioni della delezione. La malattia esordisce con ritardo della crescita pre- e postnatale, ritardo dello sviluppo globale, dismorfismi (fronte ampia, retrusione medio-facciale, sella nasale ampia, micrognazia, filtro liscio, orecchie displastiche a basso impianto), anomalie congenite (difetto del setto interatriale, anomalie gastrointestinali, malformazioni renali ed urogenitali, agenesia del corpo calloso) ed altri segni clinici, come la sordità, la compromissione della vista e le anomalie immunologiche."},"nl":{"name":"Distale deletie 19p-syndroom","synonyms":["Distale deletie 19p13.3","Distale monosomie 19p13.3","Telomerische deletie 19p"],"definition":"Distale monosomie 19p13.3 is een zeldzame chromosomale anomalie geassocieerd met een brede waaier van fenotypische kenmerken, afhankelijk van de omvang van de deletie. Het kan zich voordoen met intra-uteriene groeiretardatie, groeiachterstand, algehele ontwikkelingsachterstand, dysmorfe kenmerken (zoals breed voorhoofd, terugliggend middengezicht, brede neusbrug, micrognathie, glad filtrum, laagstaande en dysplastische oren), congenitale anomalieën (zoals atriumseptumdefect, gastro-intestinale anomalieën, renale en urogenitale malformaties, agenesie van het corpus callosum) en andere klinische kenmerken (zoals gehoorverlies, visuele beperking en immuundisregulatie)."},"pt":{"name":"Deleção distal 19p","synonyms":["Deleção distal 19p13.3","Deleção telomérica 19p","Monossomia distal 19p13.3"]},"pl":{"name":"Zespół delecji dystalnej 19p","synonyms":["Delecja dystalna 19p","Delecja telomerowa 19p"],"definition":"*Monosomia dystalna 19p13.3 jest rzadką aberracją chromosomową, która charakteryzuje się szerokim spektrum objawów fenotypowych, które zależą od wielkości delecji. Może objawiać się wewnątrzmacicznym opóźnieniem wzrastania, brakiem prawidłowego rozwoju, całościowym opóźnieniem rozwoju, cechami dysmorficznymi (takimi jak szerokie czoło, cofnięta środkowa część twarzy, szeroki grzbiet nosa, mała żuchwa, wygładzona rynienka podnosowa, nisko osadzone, dysplastyczne uszy); mogą występować wrodzone wady (w tym wady przegrody międzyprzedsionkowej serca, wady przewodu pokarmowego, nerek i układu moczowo-płciowego, agenezja ciała modzelowatego) i inne objawy kliniczne (w tym niedosłuch, upośledzenie widzenia i zaburzenia odporności)."},"cs":{"name":"Distální monozomie 19p13.3","synonyms":["Distální delece 19q","Telomerická delece 19p"]},"uk":{"name":"Дистальне видалення 19p","synonyms":["Дистальна делеція 19p13.3","Дистальна моносомія 19p13.3","Делеція теломерної ділянки 19p"],"definition":"Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation)."},"zh":{"name":"19p13.3远端单体","synonyms":["19号染色体短臂端粒缺失"],"definition":"19p13.3远端单体是一种罕见的染色体异常，具有广泛的表型特征，取决于缺失的大小。该病可表现为宫内发育迟缓、发育不全、发育迟缓、畸形特征（如前额宽阔、面中部后缩、鼻梁宽阔、小颌畸形、人中光滑、发育不良低位耳）、先天性异常（如房间隔缺损、胃肠道异常、肾和泌尿生殖系统畸形、胼胝体发育不全）和其他临床特征（如听力损失、视力损害和免疫调节障碍）。"},"tr":{"name":"Distal monozomi 19p13.3","synonyms":["Distal delesyon 19p","Telomerik delesyon 19p"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.K1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2033019033"},{"source":"MONDO","code":"0019893","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749277","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261983,"name":"Partial deletion of the short arm of chromosome 19 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"19610110[PMID]","terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010882","label":"Pulmonary valve atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100672","label":"Vaginal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null}]}}